Musculoskeletal
Aspects of Prune-Belly Syndrome
Description and Pathogenesis Randall T. Loder, MD; Jean-Paul
Guiboux, MD; David A. Bloom, MD; Robert N. Hensinger,
\s=b\ Objective.\p=m-\Todetermine the types and prevalence of musculoskeletal involvement in children with prune-belly syndrome, and to analyze the pathogenesis of the syndrome in relationship to the musculoskeletal deformities. Design.\p=m-\Aretrospective review of charts and roentgenograms along with a comprehensive review of 188 cases from the literature. Setting.\p=m-\Tertiarycare children's hospital. Participants.\p=m-\Twelveboys treated between 1975 and
1990.
Measurements/Main Results.\p=m-\Theprevalence of musculoskeletal involvement in patients was 45%. The involvement can be congenital (eg, clubfeet, limb deficiencies, teratologic hip dysplasia, and vertebral malformations) or developmental (eg, renal osteodystrophy, scoliosis, and pectus excavatum and/or pectus carinatum). The embryologic characteristics of congenital musculoskeletal problems correlate better with the embryologic theory of the prune-belly syndrome (an aberration of mesenchymal development around 6 weeks of gestation) than with the distal urinary tract obstructive theory. Conclusion.\p=m-\Sincechildren with prune-belly syndrome are now living into adulthood, these musculoskeletal aspects will become important regarding potential morbidity.
(AJDC. 1992;146:1224-1229)
triad of abdominal
prune-belly syndrome The cle deficiency, bilateral cryptorchidism (undescended abnormalities. The testes), and is
genitourinary
a
mus¬
syndrome,
first termed prune belly by Osier1 in 1901, is also known as the Eagle-Barrett syndrome2 and the triad syndrome.3 In the past, morbidity and mortality in these children resulted from genitourinary malformations,3"6 with approximately 30% having renal failure.7 Since the medical and surgical treatment of these children are improving (including renal transplantation), the genitourinary morbidity and mortal¬ ity rates are decreasing. The other features of this syn¬ drome may now become significant with regard to their long-term functional aspects.4 Orthopedic deformities can contribute to functional morbidity in these children, yet have received little attention.8 The purposes of this study were to assess musculoskeletal involvement in children
Accepted for publication May 26, 1992. From the Sections of Orthopaedic (Drs Loder, Guiboux, and Hensinger) and Urological (Dr Bloom) Surgery, The University of Michigan School of Medicine, Ann Arbor. Reprint requests to The University of Michigan Hospitals, 1500 E Medical Center Dr, 2912 G Taubman Center, Box 0328, Ann Arbor, Ml 48109\x=req-\ 0328 (Dr Loder).
MD
with prune-belly syndrome and to provide literature review. MATERIALS AND METHODS
an
extensive
We retrospectively reviewed the medical records of 12 boys with prune-belly syndrome, identified between 1975 and 1990 inclusive at the C. S. Mott Children's Hospital, The University of Michigan,
Ann Arbor. Charts were reviewed to determine the associated con¬ genital or developmental problems and the presence and type of musculoskeletal problems. Roentgenograms were reviewed to con¬ firm the types of musculoskeletal problems and to determine the magnitudes of scolioses and sagittal spinal profiles (Cobb method). Scientific literature was also reviewed to determine the same factors
where
possible.
RESULTS Five of the boys had died. One neonate, age 1
day, died of a Potter's pulmonary hypoplasia syndrome; second ne¬ onate, age 2 weeks, died of an unknown cause; and three boys, ages 9 months, 3 years, and 13 years, died of renal fail¬ ure. Of the remaining seven boys, the mean age at final re¬ view was 4 years 8 months (range, age 1 year 2 months to age 9 years 8 months). There were 21 orthopedic problems in nine (75% ) of the 12 boys (Table 1). Spinal deformities (Figs 1 and 2), bilateral clubfeet, and pectus excavatum each occurred in three chil¬ dren; hip dysplasia in two (bilateral in one and unilateral in the other) (Fig 2); anterior knee dimples in two; and bilateral knee flexion contractures with pterygiums, torticollis, super¬ numerary toes, renal osteodystrophy, and hypoplastic feet and hands each in one. The spinal deformities resembled id¬ iopathic scoliosis in two children who had pectus excava¬ tum. They presented as right thoracolumbar curves of 16° (at age 9 years 8 months) and 24° (at age 10 years 6 months), with normal9 thoracic sagittal profiles (34° and 36°, respectively). Congenital scoliosis and congenital cervical spondylolysis occurred in a third child (Fig 3). Another child with pectus excavatum died at age 9 months. Operative procedures for musculoskeletal problems and the ages at which they were performed were as follows: Open reduction and femoral shortening in the unilateral hip dislocation (11 months), bilateral clubfoot correction (2 years), supernumerary toe excision (1 year 3 months), knee contracture releases (2 years 2 months), and posterior cervi¬ cal fusion (4 years 10 months). These five procedures were performed in two children (patients 2 and 6). The bilateral hip dislocations in one child were left untreated; one child with bilateral clubfeet died before repair, and the other child with bilateral clubfeet is still awaiting correction. One child with scoliosis resembling idiopathic scoliosis has had no proor
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Table Patient No.
1.—Orthopedic Aspects of Children With Prune-Belly Syndrome: University of Michigan
Age at Review, y,
mo
13, 0 2, 1
Outcome
Patient
Musculoskeletal Problems
Age Noted,
Died Alive
Scoliosis, pectus excavatum Bilateral clubfoot, bilateral hip
10,6
Brace
Birth
Surgery for bilateral clubfoot
3, 0
Died
dislocations Renal osteodystrophy
6, 8 5, 0 7, 0
Alive
None
Alive Alive
None
0, 8
Died
hip dislocation Spondylolysis of second Left
cervical vertebra Congenital scoliosis Bilateral clubfoot Accessory hallux Bilateral knee flex contraction Renal osteodystrophy pectus
y,
Treatment
mo
1,2
only Parathyroidectomy, attempted dialysis
Birth Birth
Open
Birth Birth Birth Birth
Observation Observation
reduction
Post cervical fusion
Excision
0,8
Releases Medical
Birth
None
excavatum
0,
1
9
1 d
10
9, 8 1, 2
11
Died Died Alive Alive
hands and feet Bilateral clubfoot, torticollis
Hypoplastic
Scoliosis, pectus Knee
excavatum
abduction
dimples,
Birth
None
8,9
Observation Observation
0,3
contractures
12
1, 9
Alive
None
gression to date, and the other was in a brace. The latter child (Fig 1) would have required spinal fusion had he not died at age 13 years 4 months. No child has undergone pectus repair. Many of the series61019 regarding children with prune-
belly syndrome either fleetingly discuss or do not mention the musculoskeletal aspects. In a compilation of the first 45 cases between 1839 and 1950,20 they were very rarely men¬ tioned. The prevalence of musculoskeletal involvement in
the series that mentioned musculoskeletal aspects from 1950 onward25'8'2128 (Table 2) is 43% compared with 75% in this series, which most likely represents underreporting in the older series. The combined prevalence is 45%. the data from the literature review and this series, the prevalence of clubfeet is 26% (45% bilateral); pectus excavatum, 5%; hip dysplasia, 5%; spinal deformities, 4%; and pectus carin-
Compiling
atum, 3%.
Orthopedic management in children with prune-belly syndrome has received little attention in the literature. Tuch and Smith8 noted that one child (an arthrogrypotic) wore
braces, one child wore "corrective shoes," one child wore a scoliosis brace, and one child was in a hip spica cast for a hip
dislocation. It was not mentioned if an open reduction was necessary. Geary et al4 noted that three of four children with dislocated hips required "extensive treatment," with one re¬ quiring open reduction and femoral osteotomy at age 16 months. A vascular necrosis of the femoral head occurred in two of the other children in their series. COMMENT The incidence of prune-belly syndrome ranges between 1 in 29 000 to 1 in 40 000 live births.29 Nearly all persons with this abnormality are male; the few female patients (about 5% )
10 years 6 months, this boy had a right thoracolumbar scoliosis of 24° that progressed to 50° by age 13 years, as seen in this
Fig 1.—At age
roentgenogram.
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Fig 3.—The same boy as in Fig 2 was also noted to have a cervical spondylolysis at birth (second cervical vertebra) (arrow). Instability at age 4 years 9 months required a posterior fusion from occiput-third cervical vertebra. The deformity reduced anatomically. At age 6 years 10 months, the fusion
a
was
solid from the second and third cervical vertebrae, but was present from occiput-second cervical vertebra.
pseudarthrosis
However, there
was no
These children
susceptible to the development of respiratory insufficiency after upper respiratory tract infec¬ tions or anesthetics. Postoperative respiratory distress can develop even without a history of pulmonary problems. It has been hypothesized that these respiratory difficulties re¬
JHP'
Fig 2.—At birth, bral anomalies
this
boy was noted to have multiple congenital verte¬
(top) consisting of a butterfly vertebra
at T-11
and
a
butterfly-hemivertebra combination at the second and third lumbar ver¬ tebrae, creating a 23° right thoracolumbar scoliosis. At age 6 months, a left hip dislocation was also present (bottom). have either incomplete or questionable forms of the syn¬ drome.30 It was not until the Toronto study in 1986 when the full spectrum of abnormalities, especially those not involv¬ ing the abdominal wall and genitourinary tract, were fully defined.4 The incidence of nonurologic problems in that study was 75%, and in the New York City review21 in 1987 was
65%.
Common extrarenai
problems
are
pulmonary,
gas¬
trointestinal, developmental, and orthopedic.4 Pulmonary
problems
instability as the spondylolysis had healed.
include hypoplasia secondary to oligohydramnios29 present at birth, and recurrent bronchitis later in life.4
are
very
sult from mechanical restriction associated with thoracic cage deformities (eg, scoliosis and pectus excavatum) that develop secondarily from abdominal wall deficiency.4 Many aspects of the prune-belly syndrome require operative treat¬ ment, and it is important to be aware of these potential pul¬ monary complications. Gastrointestinal problems4'21-28 in¬ clude intestinal malrotation, small bowel stenosis, imperfo¬ rate anus, and chronic constipation. Constipation, the most common, is related to weak abdominal muscles with inad¬ equate intra-abdominal pressure for defecation. Cast immobilization can aggravate constipation. Develop¬ mental delay may consist of inadequate physical growth (height) or intellectual delay. The potential for chronic mal¬ nutrition exists with poor physical growth, and this should be remembered when considering major surgeries.31 Clubfoot is the most common orthopedic deformity, oc¬ curring in at least one quarter of all children with prune-belly syndrome. This is much higher than the incidence of 1.2 per 1000 in the white population,32 although the bilateral inci¬ dence (one half) is the same. Other foot deformities (eg, calcaneovalgus and metatarsus adductus), which are primarily postural in nature, also occur 5-8 Lower-limb hypoplasias also exist in children with prune-belly syndrome and range from complete amelias and hemimelias to hypoplastic or shriveled legs or feet with absent rays. The 5% incidence of hip dysplasia, all of which are dislocations in the prune-belly syndrome, is also much higher than that in the general white population (1.55 per 1000).33 It appears from this and another series4 that these dislocations, due to their severity, are ter¬ atologie. (Teratologie hip dysplasia is characterized by its as¬ sociation with other malformations and develops early in utero with severe soft-tissue contractures and femoral head
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Table
2.—Orthopedic Aspects of Children With Prune-Belly Syndrome: Compilation of the Literature*
No. (%) With Musculoskeletal Children Problems No. of
Series, y
Eagle
TEVt
Other EXT Foot HYPO HDt
Other
Digital
ARTH
PTER
SC
KY
SA
Spine
PE
PC
and
Barrett,2 1950
9
4(44)
5
1 (20)
3
2 (67)
2
1 (50)
16
5 (31 )
4
0
al,22
Greene et 1952
Henley and Hyman,23 1953
4(1) ...
1 (1)
.
1
1
.
.
.
Mathieu et
al,27
1953
.
1
.
Metrick et al,28
synopsis, 1957
Metrick et al,28 1957
Latti mer,26 1958
King et al,25 1961
1 (1 )
.
3 (2)
.
.
22
9(41)
7(6)
7
4(57)
1(1)
3
1 (33)
20 10
10(50) 5(50)
3(0) 4(3)
12
5(42)
5(2)
...
2
.
.
2(1)
.
Nunn and
Stephens,3 1961
Rogers and Ostrow,5 1973
Ivés,24
1974
.
2
2(1) ...
.
1
1
.
.
Tuch and 1978
Smith,8
Geary
et
1986
al,4
Burbige et al,2'
1987
25
7(28)
50
26(52)
1(0)
3
19
12
9(75)
3(3)
4
1
2
2
.
.
4
...
1
2(0) ...
...
Present
study
1 ...
4
.
1
...
1
2(1)
1
1 ...
1§
3 .
clubfoot; EXT HYPO, extremity hypoplasia (both upper and lower); HD, hip dysplasia; ARTH, arthrogryposis; PTER, pterygiumlike syndromes; SC, scoliosis; KY, kyphosis; SA, sacral agenesis; PE, pectus excavatum; and PC, pectus carinatum. *TEV indicates
tThe numbers in parentheses indicate the number of bilateral cases. tMetrick et al28 compiled another 16 cases from 13 reports and the compilation is listed here. For the exact references, refer to the original article by Metrick et al. §This was congenital scoliosis.
displacement in contrast to the typical hip dysplasia that oc¬
in an otherwise normal infant.) The incidence of pectus deformities is 8%. A correlation between pectus deformities
curs
and scoliosis has been previously described,34 where 21% of with operative pectus deformities had scoliosis. This correlates with the increased incidence of scoliosis (idiopathiclike) in the patients with prune-belly syndrome (4%) compared with that in the general population (0.1 % to 2% for significant scoliosis of >10°).35·36 The typical curve was right thoracic with an apex between T-4 and T-9, similar to the two children in our series. The results of orthopedic treatment are difficult to assess because of the rarity of reports. Tuch and Smith8 believe that standard principles of orthopedic care were adequate. This was questioned by Geary et al,4 especially regarding dislo¬ cated hips. The incidence of avascular necrosis in the treat¬ ment of teratologie hips was 48% in one series.37 Geary et al also noted a high incidence of avascular necrosis (two of four
patients
in their series of children with prune-belly syn¬ drome. Ureteral hypoperistalsis or stomas from urinary di¬ versions complicate prolonged casting. For these reasons (avascular necrosis with closed treatment, hypoperistalsis precluding prereduction traction, and urinary stomas), we recommend proceeding directly to open reduction (with femoral osteotomy and shortening, as needed) to treat these dislocated hips. The exact cause of prune-belly syndrome is not yet known, but there are two major theories.29 One is an in utero obstruc¬ tion of the distal urinary tract.2-38-41 The other is an embryologic aberration of mesenchymal development.14-16-24-42 To understand these theories, a background in abdominal wall embryology is needed. Around the 17th day of gestation, mesoderm coalesces into the paraxial, intermediate, and lat¬ eral plate mesoderm. The lateral mesoderm remains thin and divides into somatic (parietal) and splanchnic (visceral) lay¬ ers (Fig 4). In the third week, the paraxial mesoderm differ-
children)
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Fig 4.—A schematic transverse section of a human embryo at 21 days' Note the separation of the mesoderm into the paraxial meso¬ derm, intermediate mesoderm, and the lateral plate mesoderm. The lat¬ eral plate mesoderm has already separated into its somatic and splanch¬ nic layers (adapted from Sadler46).
gestation.
entiates into somites that further subdivide into sclerotomes (from which the spinal column arise) and myotomes (from which skeletal muscles arise). By the end of the fifth week, these myotomes split into dorsal epimeres (which form the extensor muscles of the vertebral column) and ventral hypomeres (which give rise to the muscles of the thoracic and abdominal walls). The hypomeres then separate into the three muscle layers of the abdominal wall. The embryologie theory explains the cryptorchidism and decreased prostatic musculature, but does not explain the male exclusiveness or the oligohydramnios. The congenital orthopedic deformities (eg, limb aplastas, clubfeet, teratologie hip dysplasia, and congenital spinal anomalies) in children with prune-belly syndrome best cor¬ relate with the embryologie theory. The spinal mesenchymal anlages form from the sclerotomes between the fourth and sixth weeks of gestation.43-44 Our case of congenital scoliosis and the previously reported case of sacral agenesis most likely resulted from an insult at this time. Limb buds develop as mesenchymal condensations of the lateral plate meso¬ derm (somatic) at the beginning of the fifth week45-46 and rap¬ idly grow outward, developing mesenchymal anlages of the bones. By the sixth week, these anlages become cartilage models. Clubfeet can arise from a primary germ plasm defect during the fifth and sixth weeks of gestation.32 The amelias, hemimelias, hypoplasias, and adactylies can be explained by an embryologie aberration during the fifth and sixth weeks. These are the same gestational times that the abdominal wall myotomes develop (Fig 5). A common insult at this time
could cause these combined defects. The hip joint develops from a common mesenchymal an¬ läge47-48 that later condenses into two distinct mesenchymal masses (proximal femur and pelvis). They become cartilag¬ inous by 8 weeks of gestation, and at 11 to 12 weeks, cavitate to form a joint. The developing hip is at risk for dislocation49 during the 12th week when cavitation occurs, the 18th week when active hip motion begins, and the final 4 weeks when abnormal mechanical forces due to intrauterine malposture (eg, oligohydramnios) exist. Abnormal mesenchymal devel¬ opment during the fifth or sixth week could create a deficient acetabulum and allow for dislocation immediately after cav¬ itation. Asynchronous development of neuromuscular units from mesenchymal aberration could also aggravate hip dis-
Fig 5.—A transverse section through the region of limb bud attachment. The limb bud is in its early stages of development. The hypomere and epimere have developed, but the hypomere has not yet differentiated into a tri-layered wall (adapted from Sadler46). location when active hip motion begins. The last several weeks of gestation in children with prune-
belly syndrome are accompanied by severe oligohydram¬ nios. Decreased space from oligohydramnios29 can cause deformities such as arthrogryposis with clubfeet and hip dislocations, and lower-limb hemimelias.50 The arthrogrypoticlike deformities seen in these children (eg, anterior knee dimples, flexion contractures, and pterygiums) can be related to decreased intrauterine space. Decreased intrauter¬ ine space from a gastroschisis also increases the incidence of arthrygropyticlike deformities.51 Gastroschisis results from aberrant physiologic umbilical herniation during the sixth week of gestation.52 Gastroschisis and prune-belly syndrome have been described in two children,53-54 giving further sup¬ port to the mesenchymal aberration theory of the prune-
belly syndrome. Developmental orthopedic deformities are also explain¬ able by the known problems in children with prune-belly syndrome. Pectus deformities are believed to be from car¬ tilaginous overgrowth55 (which may also relate to abnormal mesenchymal development) and are often asymmetrical. As the deformity progresses, adjacent ribs are altered, increas¬ ing their caudal declination and decreasing intrathoracic volume.34 This progressive chest wall and rib cage deformity has a negative effect on the developing spine, causing asym¬ metric changes in static rib support and dynamic paraspinal muscle support, and changes in intrathoracic pressure. Un¬ equal compressive forces on the vertebral endplates occur as summation of these three factors, creating scoliosis in chil¬ dren with pectus deformities.34 Scoliosis in children with
a
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prune-belly syndrome is most likely caused by these same
mechanisms, since both of our patients had pectus deformi¬
ties. Development of the scoliosis can be aggravated by tho¬ racic hypokyphosis,56-57 although we did not notice any hypokyphosis in this series. Paraspinal muscle support may also be less than normal. These muscles develop from the epimere portion of the myotome, while the prune-belly ab¬ dominal wall develops from the hypomere portion. Al¬ though it has not been investigated in children with prunebelly syndrome, paraspinal muscle abnormalities have been documented in idiopathic and nonidiopathic scoliosis.58-59 In conclusion, this review of 12 children with prune-belly syndrome and an additional 188 cases from the literature documents musculoskeletal involvement in 45% of these children. The involvement can be congenital (eg, clubfoot, limb deficiency, hip dislocation, and vertebral malforma¬ tion) or developmental (eg, renal osteodystrophy, scoliosis, pectus excavatum, and /or pectus carina turn). The embryologic characteristics of the congenital musculoskeletal prob¬ lems correlate best with the mesenchymal aberration theory of the prune-belly syndrome. Since most children with prune-belly syndrome are surviving into adulthood, the musculoskeletal aspects will become more important. Those of us involved in the multidisciplinary care of these children should be aware of these problems. References
Congenital absence of the abdominal musculature, with distended and hypertrophied urinary bladder. Bull Johns Hopkins Hosp. 1901;12: 331-333. 2. Eagle JF Jr, Barrett GS. Congenital deficiency of abdominal musculature with associated genitourinary abnormalities: a syndrome: report of nine cases. Pediatrics. 1950;6:721-736. 3. Nunn IN, Stephens FD. The triad syndrome: a composite anomaly of the 1. Osler W.
wall, urinary system, and testes. J Urol. 1961;86:782-794. Geary DF, MacLusky IB, Churchill BM, McLorie G. A broader spectrum of abnormalities in the prune belly syndrome. J Urol. 1986;135:324-326. 5. Rogers LW, Ostrow PT. The prune belly syndrome: report of 20 cases and abdominal 4.
description of a lethal variant. J Pediatr. 1973;83:786-793. 6. Woodhouse CRJ, Ransley PC, Williams-Innes D. Prune belly syndrome: report of 47 cases. Arch Dis Child. 1982;57:856-859. 7. Reinberg Y, Manivel JC, Fryd D, Najarian JS, Gonzalez R. The outcome of renal transplantation in children with the prune belly syndrome. J Urol. 1989; 142:1541-1542. 8. Tuch BA, Smith TK. Prune-belly syndrome: a report of twelve cases and review of the literature. J Bone Joint Surg Am. 1978;60:109-111. 9. Voutsinas SA, MacEwen GD. Sagittal profiles of the spine. Clin
Orthop.
1986;210:235-242. 10. Ehrlich RM, Lesavay MA, Fine RN. Total abdominal wall reconstruction in the prune belly syndrome. J Urol. 1986;136:282-285. 11. Fallat ME, Skoog SJ, Belman AB, Eng G, Randolph JG. The prune belly syndrome: a comprehensive approach to management. J Urol. 1989;142:
802-805. 12. Harley LM, Chen Y, Rattner WH. Prune belly syndrome. J Urol. 1972; 108:174-176. 13. Moerman P, Fryns J-P, Goddeeris P, Lauweryns JM. Pathogenesis of the
prune-belly syndrome: a functional urethral obstruction caused by prostatic hypoplasia. Pediatrics. 1984;73:470-475. 14. Petersen DS, Fish L, Cass AS. Twins with congenital deficiency of abdominal musculature. J Urol. 1972;107:670-672. 15. RandolphJ,Cavett C, Eng G. Abdominal wall reconstruction in the prune belly syndrome. J Pediatr Surg. 1981 ;16:960-964. 16. Straub E, Spranger J. Etiology and pathogenesis of the prune belly syndrome. Kidney Int. 1981;20:695-699. 17. Tank ES, McCoy G. Limited surgical intervention in the prune belly syndrome. J Pediatr Surg. 1983;18:688-691. 18. Welch KJ, Kearney GP. Abdominal musculature deficiency syndrome: prune belly. J Urol. 1974;111:693-700. 19. Williams Dl, Burkholder GV. The prune belly syndrome. J Urol. 1967; 98:244-251. 20. Silverman FN,
Huang N. Congenital absence of the abdominal muscles.
AJDC. 1950;80:91-124. 21. Burbige KA, Amodio J, Berdon WE, Hensle TW, Blane W, Lattimer JK. Prune belly syndrome: 35 years of experience. J Urol. 1987;137:86-90. 22. Greene LF, Emmett JL, Culp OS, Kennedy RLJ. Urologic abnormalities with congenital absence or deficiency of abdominal musculature.J Urol. 1952; 68:217-229.
23. Henley WL, Hyman A. Absent abdominal musculature, genitourinary anomalies, and deficiency in pelvic autonomic nervous system. AJDC. 1953; 86:795-798. 24. Ives EJ. The abdominal muscle
deficiency triad syndrome: experience Birth Defects. 1974;10:127-135. 25. King RL, Tucker AS, Persky L. Congenital hypoplasia of the abdominal muscles and associated genitourinary tract abnormalities. Radiology. 1961;77:
with ten
cases.
228-236. 26. Lattimer JK. Congenital deficiency of the abdominal musculature and associated genitourinary anomalies: a report of 22 cases. J Urol. 1958;79: 343-352. 27. Mathieu BJ, Goldowsky S, Chaset W, Mathieu PL Jr. Congenital defi-
ciency of the abdominal muscles (with associated multiple anomalies). J Pediatr.
1953;42:92-98. 28. Metrick S, Brown RH, Rosenblum A. Congenital absence of the abdom-
inal musculature and associated anomalies: review of recent literature and four new cases. Pediatrics. 1957;19:1043-1052. 29. Greskovich FJ III, Nyberg LM Jr. The prune belly syndrome: a review of its etiology, defects, treatment and prognosis. J Urol. 1988;140:707-712. 30. Rabinowitz R, Schill ingerJF. Prune belly syndrome in the female subject. J Urol. 1977;118:454-456. 31. Jensen JE, Jensen TG, Smith TK, Johnston DA, Dudrick SJ. Nutrition in orthopaedic surgery. J Bone Joint Surg Am. 1982;64:1263-1272. 32. Tachdjian MO. Congenital talipes equinovarus. In: Pediatric Orthopaedics. Philadelphia, Pa: WB Saunders Co; 1990:2428-2257. 33. Tachdjian MO. Congenital dysplasia of the hip. In: Pediatric Orthopaedics. Philadelphia, Pa: WB Saunders Co; 1990:297-549. 34. Waters P, Welch K, Micheli LJ, Shamberger R, Hall JE. Scoliosis in children with pectus excavatum and pectus carinatum. J Pediatr Orthop. 1989;9: 551-556. 35. Kane WJ, Moe JE. A scoliosis prevalence survey in Minnesota. Clin Or-
thop. 1970;69:216-218. 36. Rogala ES, Drummond DS, Gurr J. Scoliosis: incidence and natural history. J Bone Joint Surg Am. 1972;60:1 73-176. 37. Gruel CR, Birch JG, Roach JW, HerringJA. Teratologic dislocation of the hip. J Pediatr Orthop. 1986;6:693-702. 38. Burton BK, Dillard RG. Prune belly syndrome: observations supporting the hypothesis of abdominal overdistention. Am J Med Gen. 1984;17:669-672. 39. King CR, Prescott G. Pathogenesis of the prune-belly anomalad. Pediatr. 1978;23:273-274. 40. Monie IW, Monie BJ. Prune belly syndrome and fetal ascites. Teratology. 1979;19:111-117. 41. Pagon RA, Smith D, Shepard TH. Urethral obstruction malformation complex: a cause of abdominal muscle deficiency and the prune belly. J Pediatr. 1979;94:900-906. 42. DeKlerk DP, Scott WW. Prostatic maldevelopment in the prune belly syndrome: a defect in prostatic stromal-epithelial interaction.J Urol. 1978;120: J
341-344. 43. Ehrenhaft JL.
Development of the vertebral column as related to certain congenital and pathological changes. Surg Gynecol Obstet. 1943;76:282-292. 44. Lonstein JE. Spinal embryology. In: Winter RB, ed. Congenital Deformities of the Spine. New York, NY: Thieme-Stratton Inc; 1983:1-10. 45. O'Rahilly R, Gardner E. The timing and sequence of events in the development of the limbs in the human embryo. Anat Embryol. 1975;148:1-23. 46. Sadler TW. Langman's Medical Embryology. 6th ed. Baltimore, Md: Williams & Wilkins; 1990:145-149. 47. Gardner E, Gray DJ. Prenatal development of the human hip joint. Am J Anat. 1950;87:163-211. 48. Watanabe RS. Embryology of the human hip. Clin Orthop. 1974;98:8\x=req-\ 26. 49.
Stanisavljevic S. Etiology of congenital hip pathology, part l; anatomy of congenital hip pathology, part II. In: Tachdjian MO, ed. Congenital Dislocation of the Hip. New York, NY: Churchill Livingstone Inc; 1982:27-57. 50. Swinyard CA, Blick EE. The etiology of arthrogryposis (multiple congenital contracture). Clin Orthop. 1985;194:15-29. 51. Loder RT, Guiboux J-P. Musculoskeletal involvement in children with gastroschisis and omphalocele. J Pediatr Surg. In press. 52. Shaw A. The myth of gastroschisis. J Pediatr Surg. 1975;10:235-244. 53. Short KL, Groff DB, Cook L. The concomitant presence of gastroschisis and prune belly syndrome in a twin.J Pediatr Surg. 1985;20:186-187. 54. Wilbert C, Cohen H, Yu YT. Association of prune belly syndrome and gastroschisis. AJDC. 1978;135:526-527. 55. Ravitch MM. The chest wall. In: Welch KJ, Randolph JG, Ravitch MM, O'Neill JA Jr, Rowe Ml, eds. Pediatric Surgery. St Louis, Mo: Mosby-Year Book; 1986:chap 57. 56. Archer IA, Dickson RA. Stature and idiopathic scoliosis.J Bone Joint Surg
Br. 1985;67:185-188. 57. Dickson RA, Lawton JO, Archer IA, et al. Combined median and coronal plane asymmetry: the essential lesion of progressive idiopathic scoliosis. J Bone Joint Surg Br. 1983;65:368. 58. Gonyea WJ, Moore-Woodard C, Moseley B, Hollmann M, Wenger D. An evaluation of muscle pathology in idiopathic scoliosis. J Pediatr Orthop.
1985;5:323-329. 59. Slager UT, HowJD, Swank SM. Pathology and morphometry of the paraspinous muscles in nonidiopathic scoliosis. J Pediatr Orthop. 1987;7:301 -304.
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Aspects of Prune-Belly Syndrome
Description and Pathogenesis Randall T. Loder, MD; Jean-Paul
Guiboux, MD; David A. Bloom, MD; Robert N. Hensinger,
\s=b\ Objective.\p=m-\Todetermine the types and prevalence of musculoskeletal involvement in children with prune-belly syndrome, and to analyze the pathogenesis of the syndrome in relationship to the musculoskeletal deformities. Design.\p=m-\Aretrospective review of charts and roentgenograms along with a comprehensive review of 188 cases from the literature. Setting.\p=m-\Tertiarycare children's hospital. Participants.\p=m-\Twelveboys treated between 1975 and
1990.
Measurements/Main Results.\p=m-\Theprevalence of musculoskeletal involvement in patients was 45%. The involvement can be congenital (eg, clubfeet, limb deficiencies, teratologic hip dysplasia, and vertebral malformations) or developmental (eg, renal osteodystrophy, scoliosis, and pectus excavatum and/or pectus carinatum). The embryologic characteristics of congenital musculoskeletal problems correlate better with the embryologic theory of the prune-belly syndrome (an aberration of mesenchymal development around 6 weeks of gestation) than with the distal urinary tract obstructive theory. Conclusion.\p=m-\Sincechildren with prune-belly syndrome are now living into adulthood, these musculoskeletal aspects will become important regarding potential morbidity.
(AJDC. 1992;146:1224-1229)
triad of abdominal
prune-belly syndrome The cle deficiency, bilateral cryptorchidism (undescended abnormalities. The testes), and is
genitourinary
a
mus¬
syndrome,
first termed prune belly by Osier1 in 1901, is also known as the Eagle-Barrett syndrome2 and the triad syndrome.3 In the past, morbidity and mortality in these children resulted from genitourinary malformations,3"6 with approximately 30% having renal failure.7 Since the medical and surgical treatment of these children are improving (including renal transplantation), the genitourinary morbidity and mortal¬ ity rates are decreasing. The other features of this syn¬ drome may now become significant with regard to their long-term functional aspects.4 Orthopedic deformities can contribute to functional morbidity in these children, yet have received little attention.8 The purposes of this study were to assess musculoskeletal involvement in children
Accepted for publication May 26, 1992. From the Sections of Orthopaedic (Drs Loder, Guiboux, and Hensinger) and Urological (Dr Bloom) Surgery, The University of Michigan School of Medicine, Ann Arbor. Reprint requests to The University of Michigan Hospitals, 1500 E Medical Center Dr, 2912 G Taubman Center, Box 0328, Ann Arbor, Ml 48109\x=req-\ 0328 (Dr Loder).
MD
with prune-belly syndrome and to provide literature review. MATERIALS AND METHODS
an
extensive
We retrospectively reviewed the medical records of 12 boys with prune-belly syndrome, identified between 1975 and 1990 inclusive at the C. S. Mott Children's Hospital, The University of Michigan,
Ann Arbor. Charts were reviewed to determine the associated con¬ genital or developmental problems and the presence and type of musculoskeletal problems. Roentgenograms were reviewed to con¬ firm the types of musculoskeletal problems and to determine the magnitudes of scolioses and sagittal spinal profiles (Cobb method). Scientific literature was also reviewed to determine the same factors
where
possible.
RESULTS Five of the boys had died. One neonate, age 1
day, died of a Potter's pulmonary hypoplasia syndrome; second ne¬ onate, age 2 weeks, died of an unknown cause; and three boys, ages 9 months, 3 years, and 13 years, died of renal fail¬ ure. Of the remaining seven boys, the mean age at final re¬ view was 4 years 8 months (range, age 1 year 2 months to age 9 years 8 months). There were 21 orthopedic problems in nine (75% ) of the 12 boys (Table 1). Spinal deformities (Figs 1 and 2), bilateral clubfeet, and pectus excavatum each occurred in three chil¬ dren; hip dysplasia in two (bilateral in one and unilateral in the other) (Fig 2); anterior knee dimples in two; and bilateral knee flexion contractures with pterygiums, torticollis, super¬ numerary toes, renal osteodystrophy, and hypoplastic feet and hands each in one. The spinal deformities resembled id¬ iopathic scoliosis in two children who had pectus excava¬ tum. They presented as right thoracolumbar curves of 16° (at age 9 years 8 months) and 24° (at age 10 years 6 months), with normal9 thoracic sagittal profiles (34° and 36°, respectively). Congenital scoliosis and congenital cervical spondylolysis occurred in a third child (Fig 3). Another child with pectus excavatum died at age 9 months. Operative procedures for musculoskeletal problems and the ages at which they were performed were as follows: Open reduction and femoral shortening in the unilateral hip dislocation (11 months), bilateral clubfoot correction (2 years), supernumerary toe excision (1 year 3 months), knee contracture releases (2 years 2 months), and posterior cervi¬ cal fusion (4 years 10 months). These five procedures were performed in two children (patients 2 and 6). The bilateral hip dislocations in one child were left untreated; one child with bilateral clubfeet died before repair, and the other child with bilateral clubfeet is still awaiting correction. One child with scoliosis resembling idiopathic scoliosis has had no proor
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Table Patient No.
1.—Orthopedic Aspects of Children With Prune-Belly Syndrome: University of Michigan
Age at Review, y,
mo
13, 0 2, 1
Outcome
Patient
Musculoskeletal Problems
Age Noted,
Died Alive
Scoliosis, pectus excavatum Bilateral clubfoot, bilateral hip
10,6
Brace
Birth
Surgery for bilateral clubfoot
3, 0
Died
dislocations Renal osteodystrophy
6, 8 5, 0 7, 0
Alive
None
Alive Alive
None
0, 8
Died
hip dislocation Spondylolysis of second Left
cervical vertebra Congenital scoliosis Bilateral clubfoot Accessory hallux Bilateral knee flex contraction Renal osteodystrophy pectus
y,
Treatment
mo
1,2
only Parathyroidectomy, attempted dialysis
Birth Birth
Open
Birth Birth Birth Birth
Observation Observation
reduction
Post cervical fusion
Excision
0,8
Releases Medical
Birth
None
excavatum
0,
1
9
1 d
10
9, 8 1, 2
11
Died Died Alive Alive
hands and feet Bilateral clubfoot, torticollis
Hypoplastic
Scoliosis, pectus Knee
excavatum
abduction
dimples,
Birth
None
8,9
Observation Observation
0,3
contractures
12
1, 9
Alive
None
gression to date, and the other was in a brace. The latter child (Fig 1) would have required spinal fusion had he not died at age 13 years 4 months. No child has undergone pectus repair. Many of the series61019 regarding children with prune-
belly syndrome either fleetingly discuss or do not mention the musculoskeletal aspects. In a compilation of the first 45 cases between 1839 and 1950,20 they were very rarely men¬ tioned. The prevalence of musculoskeletal involvement in
the series that mentioned musculoskeletal aspects from 1950 onward25'8'2128 (Table 2) is 43% compared with 75% in this series, which most likely represents underreporting in the older series. The combined prevalence is 45%. the data from the literature review and this series, the prevalence of clubfeet is 26% (45% bilateral); pectus excavatum, 5%; hip dysplasia, 5%; spinal deformities, 4%; and pectus carin-
Compiling
atum, 3%.
Orthopedic management in children with prune-belly syndrome has received little attention in the literature. Tuch and Smith8 noted that one child (an arthrogrypotic) wore
braces, one child wore "corrective shoes," one child wore a scoliosis brace, and one child was in a hip spica cast for a hip
dislocation. It was not mentioned if an open reduction was necessary. Geary et al4 noted that three of four children with dislocated hips required "extensive treatment," with one re¬ quiring open reduction and femoral osteotomy at age 16 months. A vascular necrosis of the femoral head occurred in two of the other children in their series. COMMENT The incidence of prune-belly syndrome ranges between 1 in 29 000 to 1 in 40 000 live births.29 Nearly all persons with this abnormality are male; the few female patients (about 5% )
10 years 6 months, this boy had a right thoracolumbar scoliosis of 24° that progressed to 50° by age 13 years, as seen in this
Fig 1.—At age
roentgenogram.
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Fig 3.—The same boy as in Fig 2 was also noted to have a cervical spondylolysis at birth (second cervical vertebra) (arrow). Instability at age 4 years 9 months required a posterior fusion from occiput-third cervical vertebra. The deformity reduced anatomically. At age 6 years 10 months, the fusion
a
was
solid from the second and third cervical vertebrae, but was present from occiput-second cervical vertebra.
pseudarthrosis
However, there
was no
These children
susceptible to the development of respiratory insufficiency after upper respiratory tract infec¬ tions or anesthetics. Postoperative respiratory distress can develop even without a history of pulmonary problems. It has been hypothesized that these respiratory difficulties re¬
JHP'
Fig 2.—At birth, bral anomalies
this
boy was noted to have multiple congenital verte¬
(top) consisting of a butterfly vertebra
at T-11
and
a
butterfly-hemivertebra combination at the second and third lumbar ver¬ tebrae, creating a 23° right thoracolumbar scoliosis. At age 6 months, a left hip dislocation was also present (bottom). have either incomplete or questionable forms of the syn¬ drome.30 It was not until the Toronto study in 1986 when the full spectrum of abnormalities, especially those not involv¬ ing the abdominal wall and genitourinary tract, were fully defined.4 The incidence of nonurologic problems in that study was 75%, and in the New York City review21 in 1987 was
65%.
Common extrarenai
problems
are
pulmonary,
gas¬
trointestinal, developmental, and orthopedic.4 Pulmonary
problems
instability as the spondylolysis had healed.
include hypoplasia secondary to oligohydramnios29 present at birth, and recurrent bronchitis later in life.4
are
very
sult from mechanical restriction associated with thoracic cage deformities (eg, scoliosis and pectus excavatum) that develop secondarily from abdominal wall deficiency.4 Many aspects of the prune-belly syndrome require operative treat¬ ment, and it is important to be aware of these potential pul¬ monary complications. Gastrointestinal problems4'21-28 in¬ clude intestinal malrotation, small bowel stenosis, imperfo¬ rate anus, and chronic constipation. Constipation, the most common, is related to weak abdominal muscles with inad¬ equate intra-abdominal pressure for defecation. Cast immobilization can aggravate constipation. Develop¬ mental delay may consist of inadequate physical growth (height) or intellectual delay. The potential for chronic mal¬ nutrition exists with poor physical growth, and this should be remembered when considering major surgeries.31 Clubfoot is the most common orthopedic deformity, oc¬ curring in at least one quarter of all children with prune-belly syndrome. This is much higher than the incidence of 1.2 per 1000 in the white population,32 although the bilateral inci¬ dence (one half) is the same. Other foot deformities (eg, calcaneovalgus and metatarsus adductus), which are primarily postural in nature, also occur 5-8 Lower-limb hypoplasias also exist in children with prune-belly syndrome and range from complete amelias and hemimelias to hypoplastic or shriveled legs or feet with absent rays. The 5% incidence of hip dysplasia, all of which are dislocations in the prune-belly syndrome, is also much higher than that in the general white population (1.55 per 1000).33 It appears from this and another series4 that these dislocations, due to their severity, are ter¬ atologie. (Teratologie hip dysplasia is characterized by its as¬ sociation with other malformations and develops early in utero with severe soft-tissue contractures and femoral head
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Table
2.—Orthopedic Aspects of Children With Prune-Belly Syndrome: Compilation of the Literature*
No. (%) With Musculoskeletal Children Problems No. of
Series, y
Eagle
TEVt
Other EXT Foot HYPO HDt
Other
Digital
ARTH
PTER
SC
KY
SA
Spine
PE
PC
and
Barrett,2 1950
9
4(44)
5
1 (20)
3
2 (67)
2
1 (50)
16
5 (31 )
4
0
al,22
Greene et 1952
Henley and Hyman,23 1953
4(1) ...
1 (1)
.
1
1
.
.
.
Mathieu et
al,27
1953
.
1
.
Metrick et al,28
synopsis, 1957
Metrick et al,28 1957
Latti mer,26 1958
King et al,25 1961
1 (1 )
.
3 (2)
.
.
22
9(41)
7(6)
7
4(57)
1(1)
3
1 (33)
20 10
10(50) 5(50)
3(0) 4(3)
12
5(42)
5(2)
...
2
.
.
2(1)
.
Nunn and
Stephens,3 1961
Rogers and Ostrow,5 1973
Ivés,24
1974
.
2
2(1) ...
.
1
1
.
.
Tuch and 1978
Smith,8
Geary
et
1986
al,4
Burbige et al,2'
1987
25
7(28)
50
26(52)
1(0)
3
19
12
9(75)
3(3)
4
1
2
2
.
.
4
...
1
2(0) ...
...
Present
study
1 ...
4
.
1
...
1
2(1)
1
1 ...
1§
3 .
clubfoot; EXT HYPO, extremity hypoplasia (both upper and lower); HD, hip dysplasia; ARTH, arthrogryposis; PTER, pterygiumlike syndromes; SC, scoliosis; KY, kyphosis; SA, sacral agenesis; PE, pectus excavatum; and PC, pectus carinatum. *TEV indicates
tThe numbers in parentheses indicate the number of bilateral cases. tMetrick et al28 compiled another 16 cases from 13 reports and the compilation is listed here. For the exact references, refer to the original article by Metrick et al. §This was congenital scoliosis.
displacement in contrast to the typical hip dysplasia that oc¬
in an otherwise normal infant.) The incidence of pectus deformities is 8%. A correlation between pectus deformities
curs
and scoliosis has been previously described,34 where 21% of with operative pectus deformities had scoliosis. This correlates with the increased incidence of scoliosis (idiopathiclike) in the patients with prune-belly syndrome (4%) compared with that in the general population (0.1 % to 2% for significant scoliosis of >10°).35·36 The typical curve was right thoracic with an apex between T-4 and T-9, similar to the two children in our series. The results of orthopedic treatment are difficult to assess because of the rarity of reports. Tuch and Smith8 believe that standard principles of orthopedic care were adequate. This was questioned by Geary et al,4 especially regarding dislo¬ cated hips. The incidence of avascular necrosis in the treat¬ ment of teratologie hips was 48% in one series.37 Geary et al also noted a high incidence of avascular necrosis (two of four
patients
in their series of children with prune-belly syn¬ drome. Ureteral hypoperistalsis or stomas from urinary di¬ versions complicate prolonged casting. For these reasons (avascular necrosis with closed treatment, hypoperistalsis precluding prereduction traction, and urinary stomas), we recommend proceeding directly to open reduction (with femoral osteotomy and shortening, as needed) to treat these dislocated hips. The exact cause of prune-belly syndrome is not yet known, but there are two major theories.29 One is an in utero obstruc¬ tion of the distal urinary tract.2-38-41 The other is an embryologic aberration of mesenchymal development.14-16-24-42 To understand these theories, a background in abdominal wall embryology is needed. Around the 17th day of gestation, mesoderm coalesces into the paraxial, intermediate, and lat¬ eral plate mesoderm. The lateral mesoderm remains thin and divides into somatic (parietal) and splanchnic (visceral) lay¬ ers (Fig 4). In the third week, the paraxial mesoderm differ-
children)
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Fig 4.—A schematic transverse section of a human embryo at 21 days' Note the separation of the mesoderm into the paraxial meso¬ derm, intermediate mesoderm, and the lateral plate mesoderm. The lat¬ eral plate mesoderm has already separated into its somatic and splanch¬ nic layers (adapted from Sadler46).
gestation.
entiates into somites that further subdivide into sclerotomes (from which the spinal column arise) and myotomes (from which skeletal muscles arise). By the end of the fifth week, these myotomes split into dorsal epimeres (which form the extensor muscles of the vertebral column) and ventral hypomeres (which give rise to the muscles of the thoracic and abdominal walls). The hypomeres then separate into the three muscle layers of the abdominal wall. The embryologie theory explains the cryptorchidism and decreased prostatic musculature, but does not explain the male exclusiveness or the oligohydramnios. The congenital orthopedic deformities (eg, limb aplastas, clubfeet, teratologie hip dysplasia, and congenital spinal anomalies) in children with prune-belly syndrome best cor¬ relate with the embryologie theory. The spinal mesenchymal anlages form from the sclerotomes between the fourth and sixth weeks of gestation.43-44 Our case of congenital scoliosis and the previously reported case of sacral agenesis most likely resulted from an insult at this time. Limb buds develop as mesenchymal condensations of the lateral plate meso¬ derm (somatic) at the beginning of the fifth week45-46 and rap¬ idly grow outward, developing mesenchymal anlages of the bones. By the sixth week, these anlages become cartilage models. Clubfeet can arise from a primary germ plasm defect during the fifth and sixth weeks of gestation.32 The amelias, hemimelias, hypoplasias, and adactylies can be explained by an embryologie aberration during the fifth and sixth weeks. These are the same gestational times that the abdominal wall myotomes develop (Fig 5). A common insult at this time
could cause these combined defects. The hip joint develops from a common mesenchymal an¬ läge47-48 that later condenses into two distinct mesenchymal masses (proximal femur and pelvis). They become cartilag¬ inous by 8 weeks of gestation, and at 11 to 12 weeks, cavitate to form a joint. The developing hip is at risk for dislocation49 during the 12th week when cavitation occurs, the 18th week when active hip motion begins, and the final 4 weeks when abnormal mechanical forces due to intrauterine malposture (eg, oligohydramnios) exist. Abnormal mesenchymal devel¬ opment during the fifth or sixth week could create a deficient acetabulum and allow for dislocation immediately after cav¬ itation. Asynchronous development of neuromuscular units from mesenchymal aberration could also aggravate hip dis-
Fig 5.—A transverse section through the region of limb bud attachment. The limb bud is in its early stages of development. The hypomere and epimere have developed, but the hypomere has not yet differentiated into a tri-layered wall (adapted from Sadler46). location when active hip motion begins. The last several weeks of gestation in children with prune-
belly syndrome are accompanied by severe oligohydram¬ nios. Decreased space from oligohydramnios29 can cause deformities such as arthrogryposis with clubfeet and hip dislocations, and lower-limb hemimelias.50 The arthrogrypoticlike deformities seen in these children (eg, anterior knee dimples, flexion contractures, and pterygiums) can be related to decreased intrauterine space. Decreased intrauter¬ ine space from a gastroschisis also increases the incidence of arthrygropyticlike deformities.51 Gastroschisis results from aberrant physiologic umbilical herniation during the sixth week of gestation.52 Gastroschisis and prune-belly syndrome have been described in two children,53-54 giving further sup¬ port to the mesenchymal aberration theory of the prune-
belly syndrome. Developmental orthopedic deformities are also explain¬ able by the known problems in children with prune-belly syndrome. Pectus deformities are believed to be from car¬ tilaginous overgrowth55 (which may also relate to abnormal mesenchymal development) and are often asymmetrical. As the deformity progresses, adjacent ribs are altered, increas¬ ing their caudal declination and decreasing intrathoracic volume.34 This progressive chest wall and rib cage deformity has a negative effect on the developing spine, causing asym¬ metric changes in static rib support and dynamic paraspinal muscle support, and changes in intrathoracic pressure. Un¬ equal compressive forces on the vertebral endplates occur as summation of these three factors, creating scoliosis in chil¬ dren with pectus deformities.34 Scoliosis in children with
a
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prune-belly syndrome is most likely caused by these same
mechanisms, since both of our patients had pectus deformi¬
ties. Development of the scoliosis can be aggravated by tho¬ racic hypokyphosis,56-57 although we did not notice any hypokyphosis in this series. Paraspinal muscle support may also be less than normal. These muscles develop from the epimere portion of the myotome, while the prune-belly ab¬ dominal wall develops from the hypomere portion. Al¬ though it has not been investigated in children with prunebelly syndrome, paraspinal muscle abnormalities have been documented in idiopathic and nonidiopathic scoliosis.58-59 In conclusion, this review of 12 children with prune-belly syndrome and an additional 188 cases from the literature documents musculoskeletal involvement in 45% of these children. The involvement can be congenital (eg, clubfoot, limb deficiency, hip dislocation, and vertebral malforma¬ tion) or developmental (eg, renal osteodystrophy, scoliosis, pectus excavatum, and /or pectus carina turn). The embryologic characteristics of the congenital musculoskeletal prob¬ lems correlate best with the mesenchymal aberration theory of the prune-belly syndrome. Since most children with prune-belly syndrome are surviving into adulthood, the musculoskeletal aspects will become more important. Those of us involved in the multidisciplinary care of these children should be aware of these problems. References
Congenital absence of the abdominal musculature, with distended and hypertrophied urinary bladder. Bull Johns Hopkins Hosp. 1901;12: 331-333. 2. Eagle JF Jr, Barrett GS. Congenital deficiency of abdominal musculature with associated genitourinary abnormalities: a syndrome: report of nine cases. Pediatrics. 1950;6:721-736. 3. Nunn IN, Stephens FD. The triad syndrome: a composite anomaly of the 1. Osler W.
wall, urinary system, and testes. J Urol. 1961;86:782-794. Geary DF, MacLusky IB, Churchill BM, McLorie G. A broader spectrum of abnormalities in the prune belly syndrome. J Urol. 1986;135:324-326. 5. Rogers LW, Ostrow PT. The prune belly syndrome: report of 20 cases and abdominal 4.
description of a lethal variant. J Pediatr. 1973;83:786-793. 6. Woodhouse CRJ, Ransley PC, Williams-Innes D. Prune belly syndrome: report of 47 cases. Arch Dis Child. 1982;57:856-859. 7. Reinberg Y, Manivel JC, Fryd D, Najarian JS, Gonzalez R. The outcome of renal transplantation in children with the prune belly syndrome. J Urol. 1989; 142:1541-1542. 8. Tuch BA, Smith TK. Prune-belly syndrome: a report of twelve cases and review of the literature. J Bone Joint Surg Am. 1978;60:109-111. 9. Voutsinas SA, MacEwen GD. Sagittal profiles of the spine. Clin
Orthop.
1986;210:235-242. 10. Ehrlich RM, Lesavay MA, Fine RN. Total abdominal wall reconstruction in the prune belly syndrome. J Urol. 1986;136:282-285. 11. Fallat ME, Skoog SJ, Belman AB, Eng G, Randolph JG. The prune belly syndrome: a comprehensive approach to management. J Urol. 1989;142:
802-805. 12. Harley LM, Chen Y, Rattner WH. Prune belly syndrome. J Urol. 1972; 108:174-176. 13. Moerman P, Fryns J-P, Goddeeris P, Lauweryns JM. Pathogenesis of the
prune-belly syndrome: a functional urethral obstruction caused by prostatic hypoplasia. Pediatrics. 1984;73:470-475. 14. Petersen DS, Fish L, Cass AS. Twins with congenital deficiency of abdominal musculature. J Urol. 1972;107:670-672. 15. RandolphJ,Cavett C, Eng G. Abdominal wall reconstruction in the prune belly syndrome. J Pediatr Surg. 1981 ;16:960-964. 16. Straub E, Spranger J. Etiology and pathogenesis of the prune belly syndrome. Kidney Int. 1981;20:695-699. 17. Tank ES, McCoy G. Limited surgical intervention in the prune belly syndrome. J Pediatr Surg. 1983;18:688-691. 18. Welch KJ, Kearney GP. Abdominal musculature deficiency syndrome: prune belly. J Urol. 1974;111:693-700. 19. Williams Dl, Burkholder GV. The prune belly syndrome. J Urol. 1967; 98:244-251. 20. Silverman FN,
Huang N. Congenital absence of the abdominal muscles.
AJDC. 1950;80:91-124. 21. Burbige KA, Amodio J, Berdon WE, Hensle TW, Blane W, Lattimer JK. Prune belly syndrome: 35 years of experience. J Urol. 1987;137:86-90. 22. Greene LF, Emmett JL, Culp OS, Kennedy RLJ. Urologic abnormalities with congenital absence or deficiency of abdominal musculature.J Urol. 1952; 68:217-229.
23. Henley WL, Hyman A. Absent abdominal musculature, genitourinary anomalies, and deficiency in pelvic autonomic nervous system. AJDC. 1953; 86:795-798. 24. Ives EJ. The abdominal muscle
deficiency triad syndrome: experience Birth Defects. 1974;10:127-135. 25. King RL, Tucker AS, Persky L. Congenital hypoplasia of the abdominal muscles and associated genitourinary tract abnormalities. Radiology. 1961;77:
with ten
cases.
228-236. 26. Lattimer JK. Congenital deficiency of the abdominal musculature and associated genitourinary anomalies: a report of 22 cases. J Urol. 1958;79: 343-352. 27. Mathieu BJ, Goldowsky S, Chaset W, Mathieu PL Jr. Congenital defi-
ciency of the abdominal muscles (with associated multiple anomalies). J Pediatr.
1953;42:92-98. 28. Metrick S, Brown RH, Rosenblum A. Congenital absence of the abdom-
inal musculature and associated anomalies: review of recent literature and four new cases. Pediatrics. 1957;19:1043-1052. 29. Greskovich FJ III, Nyberg LM Jr. The prune belly syndrome: a review of its etiology, defects, treatment and prognosis. J Urol. 1988;140:707-712. 30. Rabinowitz R, Schill ingerJF. Prune belly syndrome in the female subject. J Urol. 1977;118:454-456. 31. Jensen JE, Jensen TG, Smith TK, Johnston DA, Dudrick SJ. Nutrition in orthopaedic surgery. J Bone Joint Surg Am. 1982;64:1263-1272. 32. Tachdjian MO. Congenital talipes equinovarus. In: Pediatric Orthopaedics. Philadelphia, Pa: WB Saunders Co; 1990:2428-2257. 33. Tachdjian MO. Congenital dysplasia of the hip. In: Pediatric Orthopaedics. Philadelphia, Pa: WB Saunders Co; 1990:297-549. 34. Waters P, Welch K, Micheli LJ, Shamberger R, Hall JE. Scoliosis in children with pectus excavatum and pectus carinatum. J Pediatr Orthop. 1989;9: 551-556. 35. Kane WJ, Moe JE. A scoliosis prevalence survey in Minnesota. Clin Or-
thop. 1970;69:216-218. 36. Rogala ES, Drummond DS, Gurr J. Scoliosis: incidence and natural history. J Bone Joint Surg Am. 1972;60:1 73-176. 37. Gruel CR, Birch JG, Roach JW, HerringJA. Teratologic dislocation of the hip. J Pediatr Orthop. 1986;6:693-702. 38. Burton BK, Dillard RG. Prune belly syndrome: observations supporting the hypothesis of abdominal overdistention. Am J Med Gen. 1984;17:669-672. 39. King CR, Prescott G. Pathogenesis of the prune-belly anomalad. Pediatr. 1978;23:273-274. 40. Monie IW, Monie BJ. Prune belly syndrome and fetal ascites. Teratology. 1979;19:111-117. 41. Pagon RA, Smith D, Shepard TH. Urethral obstruction malformation complex: a cause of abdominal muscle deficiency and the prune belly. J Pediatr. 1979;94:900-906. 42. DeKlerk DP, Scott WW. Prostatic maldevelopment in the prune belly syndrome: a defect in prostatic stromal-epithelial interaction.J Urol. 1978;120: J
341-344. 43. Ehrenhaft JL.
Development of the vertebral column as related to certain congenital and pathological changes. Surg Gynecol Obstet. 1943;76:282-292. 44. Lonstein JE. Spinal embryology. In: Winter RB, ed. Congenital Deformities of the Spine. New York, NY: Thieme-Stratton Inc; 1983:1-10. 45. O'Rahilly R, Gardner E. The timing and sequence of events in the development of the limbs in the human embryo. Anat Embryol. 1975;148:1-23. 46. Sadler TW. Langman's Medical Embryology. 6th ed. Baltimore, Md: Williams & Wilkins; 1990:145-149. 47. Gardner E, Gray DJ. Prenatal development of the human hip joint. Am J Anat. 1950;87:163-211. 48. Watanabe RS. Embryology of the human hip. Clin Orthop. 1974;98:8\x=req-\ 26. 49.
Stanisavljevic S. Etiology of congenital hip pathology, part l; anatomy of congenital hip pathology, part II. In: Tachdjian MO, ed. Congenital Dislocation of the Hip. New York, NY: Churchill Livingstone Inc; 1982:27-57. 50. Swinyard CA, Blick EE. The etiology of arthrogryposis (multiple congenital contracture). Clin Orthop. 1985;194:15-29. 51. Loder RT, Guiboux J-P. Musculoskeletal involvement in children with gastroschisis and omphalocele. J Pediatr Surg. In press. 52. Shaw A. The myth of gastroschisis. J Pediatr Surg. 1975;10:235-244. 53. Short KL, Groff DB, Cook L. The concomitant presence of gastroschisis and prune belly syndrome in a twin.J Pediatr Surg. 1985;20:186-187. 54. Wilbert C, Cohen H, Yu YT. Association of prune belly syndrome and gastroschisis. AJDC. 1978;135:526-527. 55. Ravitch MM. The chest wall. In: Welch KJ, Randolph JG, Ravitch MM, O'Neill JA Jr, Rowe Ml, eds. Pediatric Surgery. St Louis, Mo: Mosby-Year Book; 1986:chap 57. 56. Archer IA, Dickson RA. Stature and idiopathic scoliosis.J Bone Joint Surg
Br. 1985;67:185-188. 57. Dickson RA, Lawton JO, Archer IA, et al. Combined median and coronal plane asymmetry: the essential lesion of progressive idiopathic scoliosis. J Bone Joint Surg Br. 1983;65:368. 58. Gonyea WJ, Moore-Woodard C, Moseley B, Hollmann M, Wenger D. An evaluation of muscle pathology in idiopathic scoliosis. J Pediatr Orthop.
1985;5:323-329. 59. Slager UT, HowJD, Swank SM. Pathology and morphometry of the paraspinous muscles in nonidiopathic scoliosis. J Pediatr Orthop. 1987;7:301 -304.
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