American Journal of M e d i c a l Genetics 44:274-279 (1992)

Brief Clinical Report Postaxial Acrofacial Dysostosis: Report on Two Patients Sonia C.S. Pereira, Christiane M.G. Rocha, M.L. Guion-Almeida, and A. Richieri-Costa Servico de Gendtica Clinica, Hospital de Pesquisa e Reabilitqcio de LesBes Labw-Palatais, Universidade de Scio Paulo, Bauru, SP, Brazil

We report on 2 patients with the postaxial acrofacial dysostosis (AFD) syndrome. One patient was an isolated case; the other had an equally affected brother previously described [Richieri-Costa and Guion-Almeida, 19891. Recurrence in sibs suggests autosomal recessive inheritance. o 1992 WiIey-Liss, Inc.

KEY WORDS: postaxial acrofacial dysostosis, Genee-Wiedemann syndrome, Miller syndrome, autosomal recessive inheritance INTRODUCTION Most reported cases of AFD syndrome have been sporadic [Birch-Jensen, 1949; GenBe, 1969; Wiedemann, 1973; Brunoni et al., 1987; Meinecke and Wiedemann, 1987; Vigneron et al., 19911, but autosomal recessive [Fineman, 1981, Opitz and Stickler, 1987; OgilvyStuart and Parsons, 19911 and autosomal dominant inheritance [Robinow et al., 19861 have been reported. Here we report on an isolated case and on a recurrence in a sister of a patient previously reported by RichieriCosta and Guion-Almeida [19891.

lies were soon noted at birth. Neuropsychological development was normal. Clinical examination a t age 22 months showed height of 72 cm (< 3rd centile), weight of 7,050 g (< 3rd centile), and OFC of 45 cm (50th centile) (both corrected for height). She presented short stature, round face, deepset eyes, mild hypoplasia of the malar bones, puffy cheeks, limited movement of the temporo-mandibular joint, micrognathia, submucous cleft palate, cleft uvula, short and webbed neck, pectus escavatum, hypoplastic forearms, limited movement of the left elbow, ulnar deviation of the hands and wrists (Fig. lA), absence of the 5th rays, polysyndactyly of the 2nd finger and camptodactyly of the fingers 2-4, at left (Fig. 2), tibia1 deviation of toes 4, shortness of the 5th toes, toraco-lumbar scoliosis. Roentgenograms showed: hypoplastic spinous process of the first cervical and fusion of the spinous process of the 2nd and 3rd cervical vertebrae, humeroradial synostosis, bowed and short radius, hypoplastic ulna, hypoplastic metacarpals, duplication of the middle and distal phalanges of finger 2, at left, mild hypoplasia of the right radius, absence of the 5th ray bilaterally (Figs. 3, 41, thoraco-lumbar scoliosis.

Patient 2 JS (Fig. 51, a girl, was born in 1989 to a G6P4A2 26-

CLINICAL REPORTS year-old mother and her nonconsanguineous 29-yearPatient 1 old husband. The outcomes of previous pregnancies reSCPA (Fig. 1A-C) was born in 1989. She is the first sulted in 2 first trimester abortions, 2 normal girls, and child of a 19-year-old normal mother and her noncon- an equally affected boy, age 8 years. Pregnancy was sanguineous 27-year-old normal husband. Pregnancy normal with absence of exposure to toxins, infections, was normal with absence of exposure to toxins, infec- traumatic incidents, or radiation. Delivery was through tions, traumatic incidents, or radiation. Delivery was cesarean section a t term. BW 3,800. TBL and OFC were through cesarean section a t term. BW was 3,500g (50th not recorded. Cleft palate and limb anomalies were centile), TBL and OFC were not recorded. Limb anoma- noted a t birth. Neuropsychological development was normal. Clinical examination at age 18months showed length: 77 cm (< 25th centile), weight: 8.2 kg (< 3rd centile), Received for publication April 8, 1991; revision received Febru- OFC 44.5 cm (< 25th centile), inner canthal distance 2.6 cm (50th-75th centile), outer canthal distance 6.7 cm ary 27, 1992. Address reprint requests to A. Richieri-Costa,Servico de Genet- (25th centile), palpebral fissures 1.7 cm (< 3rd centile), ica Clfnica, HPRLLP-USP, P.O. Box 620,17043 Bauru, SP, Brazil. prominent supraorbital ridges, deeply set eyes, upward 0 1992 Wiley-Liss, Inc.

Postaxial Acrofacial Dysostosis

275

Fig. 1. A-C. General, frontal, and lateral views of the patient 1.

Fig. 2. A-B. Clinical aspects of the hands of the patient 1

slant of the palpebral fissures, small and S-shape palpebral fissures, scarce eyelashes in the lower lids, median cleft of the soft palate, micrognathia, mild malar hypoplasia, hypoplastic forearms (markedly a t left), ulnar deviation of the hands and wrists, absence of the 5th rays, hypoplasia of the 1st and 2nd fingers at left with proximal cutaneous syndactyly, hypoplastic thumb a t left (Fig. 61,absence of the 5th rays, syndactyly between toes 1-2, and hypoplastic toe 3 at left (Fig. 7). Dermatoglyphics are shown in Table I. Roentgenograms showed bilaterally hypoplastic, bowed and abnormally modeled radii and ulnae, absence of the 5th ray, hypoplastic rays 1-2, markedly a t left (Fig. 81, and hypoplastic metatarsal 3-4 at left, hypoplastic phalanges, absence of the 5th rays (Fig. 9).

DISCUSSION During the last 20 years, the 20 reports (including the present one) on Genbe-Wiedemann syndrome brought

Fig. 3. A-B. Radiological aspects of the left upper limb of the patient 1.

the overall number of affected patients to 27 (Tables 11, 111). Most cases have been sporadic [Genke, 1969; Wiedemann, 1973; Pashayan and Feingold, 1975; Smith and Jones, 1975; Wildervanck, 1975; Miller et al., 1979;Poissonnier et al., 1983; Donnai et al., 1987; Meinecke and Wiedemann, 1987; F’ryns and Van den Berghe, 1988; Hauss-Albert and Passarge, 1988; Barbuti et al., 1989; Chrzanowska et al., 1989; Richieri and Guion-Almeida,

276

Pereira et al.

Fig. 4. A-B. Radiological aspects of the right upper limb of patient 1.

Fig. 6. Patient 2: (A), right arm (B) left arm, (C) hands.

Fig. 5. A,B. Face of patient 2.

1989; Vigneron et al., 19911. Recurrence in sibs (observed in 4 instances) [Fineman, 1981; Opitz and Stickler, 1987; Ogilvy-Stuart; Parsons, 1991; and patient 2 of the present report] and vertical transmission (in one instance, mother and son) [Robinow et al., 19861 suggests genetic heterogeneity, and the report of patients with severe postaxial limb involvement related with the Genee-Wiedemann syndrome, could suggest clinical heterogeneity [Rodriguez et al., 19901, in spite of the broad spectrum of the postaxial AFD syndrome [Opitz and Stickler, 1987; Ogilvy-Stuart and Parsons, 19911. In the present report the occurrence of an affected girl (patient 2) with an equally affected brother, previously reported by Richieri-Costa and Guion-Almeida [19891,

Fig. 7. Clinical aspects of the feet of the patient.

Postaxial Acrofacial Dysostosis

277

Fig. 8. Radiological aspects of the upper limbs of the patient. Fig. 9. Radiological aspects of the lower limbs of the patient.

TABLE I. Dermatoglyphic Patterns of Patient 2 and Her Affected Brother*

Patient 2 Left Right Affected brother Left Right

Digits 111

IV

V

a-b ridge count

b-c ridge count

c-d ridge count

A'-d ridge count

L"

L' L"

-

-

-

-

-

A W

W W

-

43

32

d absent

d absent

I

I1

?

?

L'

L"

A

A A

L"

L'

45 c absent d absent d absent *Patient 2 (the proposita) had hypoplastic creases. Her brother presented as additional findings: triradii t distally placed, acessory triradii c, vestigial (V) pattern in the thenar region, hypothenar pattern (L"), verticalization of the line T toward the 2nd interdigital area.

TABLE 11. Main Clinical Data Present in Patients With the GenBe-Wiedemann Syndrome: Isolated Cases' References Sex Malar hypoplasia Micrognathia Antimongoloid slant Lower lid ectropion Cleft palate Cleft lip Ear anomalies Deafness CHD Extra nipples Upper limbs NHypoplasia first ray NHypoplasia fifth ray Radial anomalies Ulnar anomalies Radio-ulnar synostosis Lower limbs NHypoplasiafirst ray NHypoplasia fifth ray Tibia1 anomalies Fibular anomalies

1

C1 M

+ + + + + +

2 3 C1 C1 M M

4 5 6 7 8 8 8 C1 C 1 C1 C 1 C1 C2 C3 M M M M F M F

- + + + - + + + + + + + + + + + + + + + + + + + + + + - + + + - + + + - + + + + + + - + + + + + + + +

+ + + + + + + + +

-

-

-

+

-

-

+

-

+

+ +

-

+ -

-

-

+

-

-

+

9 10 C1 C1 M M

11 12 C1 C1 M F

12 C2 M

13 Present Report C1 Patient 1 M F

+ + + + + + + + + + ++ +- -+ -+ - + - - ++ +- ++ ++ + + + + - + + + + + - + + + + + + - + + + -+ -- +- - - + + + + + + + - + + + - - - + + + + + + + + + + + + + + + + + + + - + + - + + + + + - + + - + + - -

-

+ +

-

+

-

+

-

+

-

-

+

-

-

+

-

+ +

-

+ + - -

+ - -

+

+

+ +

-

+ -

+ + + + + -

-

*Legend C = Case; + = present; - = absent; F = female;M = male; CHD = congenital heart disease; 1 = GenBe, 1969;2 = Wiedemann, 1973; 3 = Pashayan and Feingold, 1975;4 = Wildervanck;5 = Smith and Jones, 1975;6 = Miller et al., 1979;7 = Poissonnier et al., 1983;8 = Donnai et al., 1987;9 = Mainecker and Wiedemann, 1987; 10 = Fryns and Van den Berghe, 1988; 11 = Hauss-Albert and Passarge, 1988; 12 = Chrzanowska et al., 1989;13 = Vigneron et al., 1991.

Malar hypoplasia Micrognathia Antimongoloid slant Lower lid ectropion Cleft palate Cleft lip Ear anomalies Deafness CHD Extra nipples Upper limbs AlHypoplasia first ray AlHypoplasia fifth ray Radial anomalies Ulnar anomalies Radio-ulnar synostosis Lower limbs A/Hypoplasia first ray AlHypoplasia fifth ray Tibia1 anomalies Fibular anomalies

SeX

References

-

+

-

-

-

+ + + + + ++ + + + + +

Miller et al., 1979 c2 F

-

c1

Fineman, 1981

-

-

-

-

+ + + + +

-

-

+ + + + + + +

+ + + + ++ + +

Autosomal Recessive Inheritance Richieri-Costa and GuionOgilvy-Stuart and Opitz and Stickler, Almeida, 1987 Parsons, 1991 1989 c1 c2 c1 c1 C2 M 2

Present Report Patient

Autosomal Dominant Inheritance Robinow et al., 1986 c1 c2

TABLE 111. Main Clinical Data Present in Patients With the Genee-Wiedemann Syndrome: Familial Cases

Postaxial Acrofacial Dysostosis documents the autosomal recessive pattern of inheritance of this syndrome.

REFERENCES Barbuti D, Orazi C, Reale A, Paradisi C (1989): Postaxial acrofacial dysostosis or Miller syndrome. Eur J Pediatr 148:445-446. BirchJensen A (1949): Congenital deformities of the upper extremities. Domus Biologiae Humanae, Universitatis Hafniensis. Andelsbogirykkeriet i Odense and Det danske Forlag, 285 pp. Brunoni B, Guidugli-Net0 J , Chedick ES, Borovic CL (1987):Acrofacial dysostosis: A new type? Rev Bras Genet 10353-360. Chrzanowska KH, Fryns JP, Krajewska-Walasek M, Wisniewski L, Van den Berghe H (1989): Phenotype variability in the Miller acrofacial dysostosis syndrome. Report of two further patients. Clin Genet 35157-160. Donnai D, Hughes HE, Winter RM (1987):Postaxial acrofacial dysostosis (Miller) syndrome. J Med Genet 24:422-425. Fineman RM (1981): Recurrence of the postaxial acrofacial dysostosis syndrome in a sibship: Implications for genetic counselling. J Pediatr 98:87-88. Fryns JP, Van den Berghe H (1988):Acrofacial dysostosis with postaxial limb deficiency. Am J Med Genet 29205-208. Genee E (1969):Une forme extensive de dysostose mandibulo-faciale.J a n & Hum 17:45-52. Hauss-Albert H, Passarge E (1988): Postaxial acrofacial dysostosis syndrome with microcephaly, seizures and profound mental retardation. Am J Med Genet 31:701-703. Meinecke P, Wiedemann HR (1987): Robin sequence and oligodactyly

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in mother and son. Probably a further example of the postaxial acrofacial dysostosis syndrome. Am J Med Genet 27:953-956. Miller M, Fineman R, Smith DW (1979):Postaxial acrofacial dysostosis syndrome. J Pediatr 95970-975. Ogilvy-Stuart AL, Parsons AC (1991):Miller syndrome (postaxial acrofacial dysostosis): Further evidence for autosomal recessive inheritance and expansion of the phenotype. J Med Genet 28695-700. Opitz JM, Stickler GM (1987): The GenBe-Wiedemann syndrome, an acrofacial dysostosis: Further observation. Am J Med Genet 2T971-975. Pashayan H, Feingold M (1975):Case report 28, patient 2. Synd Ident 3:9-10. Poissonnier M, Neuville V, Petit Ph, Busuttil R (1983): Dysostose mandibubfaciale et ulno-fibulaire lethale. Ann Pediatr 30~713-717. Richieri-Costa A, Guion-Almeida ML (1989): Postaxial acrofacial dysostosis: Report of a Brazilian patient. Am J Med Genet 33:447-449. Robinow M, Johnson GF, Apesos J (1986):Robin sequence and oligodactyly in mother and son. Am J Med Genet. 25:293-297. Rodriguez JI, Palacios J, Urioste M (1990): New acrofacial dysostosis syndrome in 3 sibs. Am J Med Genet 35484-489. Smith DW, Jones KL (1975): Case report 28, patient 1. Synd Ident 3:7-8. Vigneron J , Stricker M, Vert P, Rousselot JM, Levy N (1991):Postaxial acrofacial dysostosis (Miller) syndrome: A new case. J Med Genet 28:636-638. Wiedemann HR (1973): Missbildungs-Retardierungs-Syndrommit Fehlen des 5 Strahls an Handen and Fussen. GaumensDake,dvsplastichen Ohren und Augenlidern und radioulnarer S;nostose-. Klin Padiatr 185:lSl-186. Wildervanck LS (1975):Case report 28, patient 3. Synd Ident 3:ll-13.

Postaxial acrofacial dysostosis: report on two patients.

We report on 2 patients with the postaxial acrofacial dysostosis (AFD) syndrome. One patient was an isolated case; the other had an equally affected b...
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