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doi:10.1111/jog.12603

J. Obstet. Gynaecol. Res. Vol. 41, No. 4: 628–630, April 2015

Prenatal diagnosis of congenital hallux varus deformity associated with pericentric inversion of chromosome 9 Sebahat Atar Gürel Division of Perinatology, Department of Obstetrics and Gynecology, Maternity and Children’s Hospital, Ministry of Health and Medical School of Ordu University, Ordu, Turkey

Abstract Congenital hallux varus is a rare deformity of the great toe characterized by adduction of the hallux and medial displacement of the first metatarsophalangeal joint. Prenatal diagnosis of congenital hallux varus is presented herein. A 32-year-old woman was referred to our unit due to significant deviation of the fetal right great toe at 22+2 weeks of pregnancy. Ultrasound examination revealed a thick and short great toe, which was significantly angulated medially on the right side. Amniocentesis was performed and the result was reported as inv(9) (p11;q12). After delivery, the clinical examination confirmed the prenatal diagnosis. To our knowledge, this is the first reported prenatal diagnosis of an isolated congenital hallux varus. Congenital hallux varus can be diagnosed easily in the prenatal period by 2-D and 4-D ultrasonography. Prenatal karyotyping should be taken into consideration, especially in the presence of associated anomalies, such as polydactyly and clubfoot. Key words: chromosome 9 inversion, congenital hallux varus, prenatal diagnosis, ultrasonography.

Introduction Hallux varus is a rare deformity of the great toe that is characterized by adduction of the hallux and medial displacement of the first metatarsophalangeal joint. Hallux varus is usually unilateral and can be associated with a short/thick first metatarsal, accessory metatarsals and phalanges, varus deformity of the lateral metatarsals and a firm fibrous band that extends from the medial side of the great toe to the base of the first metatarsal.1

Case Report A 32-year-old woman, G2, P1, was referred to our unit due to significant deviation of the fetal right great toe at

22+2 weeks of pregnancy. Her routine first-trimester ultrasound screening at 12+4 weeks was reported as normal findings and the nuchal translucency measurement was 1.5 mm. Ultrasound examination at 22+2 weeks showed a thick and short great toe, which was significantly angulated medially on the right side (Fig. 1a,b). Detailed ultrasonography revealed no other abnormality. Four-dimensional ultrasound was performed in addition to 2-D examination, to better define the pathology, and the 4-D ultrasound depicted the hallux varus deformity more clearly and in more detail than the 2-D examination (Fig. 1c). Karyotyping was offered to the family due to the resemblance of the ultrasonographic appearance to the significant form of ‘sandal gap’ deformity. Amniocentesis was performed at 22+2 weeks and the result was reported as inv(9)

Received: December 31 2013. Accepted: August 26 2014. Reprint request to: Professor Sebahat Atar Gürel, Medipol Üniversite Hastanesi, Bag˘cılar, 34214 I˙stanbul, Turkey. Email: [email protected] Present address: Sebahat Atar Gürel, Department of Gynecology and Obstetrics, Medical School, Istanbul Medipol University, Istanbul, Turkey. This study was presented as a poster presentation at the FMF 12th World Congress in Fetal Medicine, Marbella, Spain.

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© 2014 The Author Journal of Obstetrics and Gynaecology Research © 2014 Japan Society of Obstetrics and Gynecology

Congenital hallux varus

Figure 1 (a,b) Two-dimensional ultrasound image showing a nearly 90° angulation, and partially duplicated right great toe. (c) Four-dimensional ultrasound image showing clearly marked medial angulation and broadening of the great toe. (d) Postnatal appearance of the right foot displaying marked broadening of the right great toe due to the partial duplication. The great toe is angled by nearly 90° toward the tibial side.

(p11;q12), which was re-defined as inv(9)(p12q13) in the 2013 International System for Human Cytogenetic Nomenclature. The antenatal period progressed uneventfully. A female newborn weighing 4020 g was delivered by cesarean section at 38 weeks of gestation. Examination of the neonate revealed a medially angulated, thick great toe on the right side. Furthermore, there was incomplete duplication of the great toe, namely preaxial polydactyly (Fig. 1d). Passive correction of the angulation proved impossible. Physical examination of the neonate was normal otherwise. The baby is doing well now and waiting for surgical correction.

Discussion Hallux varus can be in congenital or acquired forms. Acquired hallux varus may be secondary to postoperative complications, inflammatory arthritis, posttraumatic causes, or neuromuscular disorders.2–5 Furthermore, it can be idiopathic.6 Congenital hallux varus is less common than the acquired form and the isolated form occurs very rarely.7 Congenital hallux varus is not considered to be hereditary and is often

associated with polydactyly or other deformities of the skeleton. The incidence, inheritance pattern and other characteristics are not well known. Jutur et al.8 reported the presence of hallux varus deformity in the left foot of the fetus, in addition to a narrow thorax, bilateral enlarged echogenic kidneys, micromelia, bilateral polydactyly and club feet on the ultrasound examination performed at 28 weeks in their case report of short rib polydactyly syndrome–type 2 (Majewski syndrome). However, they did not mention the presence of hallux varus on the infantogram or the autopsy findings after delivery. So, prenatal diagnosis of hallux varus in this case report is a disputable subject, as it is not clear whether or not hallux varus was verified in the postnatal period. If it had been verified in the postnatal period, it is likely that this rare pathology would have been mentioned in the discussion portion of the report. Moreover, there were other abnormalities in addition to hallux varus in this case report. Isolated hallux varus was reported herein and as far as is known there is no other report of prenatal diagnosis of isolated hallux varus in the published work. It has been reported that isolated hallux varus is generally associated with duplication of the first ray

© 2014 The Author Journal of Obstetrics and Gynaecology Research © 2014 Japan Society of Obstetrics and Gynecology

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and that real duplication is rarely seen.7,9 There was incomplete duplication of the first ray in this case and it was characterized by a broader and thicker great toe than normal, and the presence of an extra small digit on the medial side (Fig. 1a,d). Prenatal diagnosis of hallux varus may be confused with bifid great toe. Prenatal diagnosis of bifid great toe has been reported before.10 These two pathologies are similar in terms of the presence of preaxial polydactyly. But they differ from each other with regard to the presence of varus deformity in hallux varus. The pericentric inversion of chromosome 9 [inv(9)] is one of the most common structural balanced chromosomal variations. The incidence of inv(9) has been reported to be about 1–3% in the general population.11,12 Due to the fact that the incidence of inv(9) is similar to that of the normal population in patients with congenital anomalies,13 inv(9) is generally considered as a normal variant.12 Even though inv(9) is generally accepted as a normal variant, it can be associated with some pathological conditions, such as infertility, recurrent pregnancy loss, congenital abnormalities and cancer.12,14 Hence, it is not clear whether inv(9)(p12q13) is a normal variant or an abnormal karyotype.14 No data could be obtained from the published work about hallux-varus-associated genetic abnormalities. Due to the fact that inv(9) is commonly seen in the normal population, this association may be a coincidental finding, or there may be an association between congenital hallux varus and chromosomal abnormalities. Treatment is planned according to the severity of the deformity and the rigidity of the contracted soft structures. Operative treatment is generally required and recommended between 9 and 24 months of age. The same is true for our patient and she is waiting for surgical correction. According to the literature review, this is the first report of prenatally diagnosed isolated congenital hallux varus. Furthermore, for the first time, a structural chromosomal aberration-associated congenital hallux varus has been detected in the prenatal period. Congenital hallux varus can be diagnosed easily in the

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prenatal period by 2-D and 4-D ultrasonography. Although pericentric inversion of chromosome 9 is generally considered as a normal variant, prenatal karyotyping should be considered for the evaluation of cases with congenital hallux varus, especially in the presence of associated anomalies, such as polydactyly and clubfoot.

Disclosure None declared.

References 1. McElvenny RT. Hallux varus. Q Bull Northwest Univ Med Sch 1941; 15: 277–280. 2. Tourne Y, Saragaglia D, Picard F, De Sousa B, Montbarbon E, Charbel A. Iatrogenic hallux varus surgical procedure; a study of 14 cases. Foot Ankle Int 1995; 16: 457–463. 3. Gould N. Surgery of the forepart of the foot in rheumatoid arthritis. Foot Ankle 1982; 3: 173–180. 4. Mullis DL, Miller WE. A disabling sports injury of the great toe. Foot Ankle 1980; 1: 22–25. 5. Jahss MH. Spontaneous hallux varus: Relation to poliomyelitis and congenital absence of the fibular sesamoid. Foot Ankle 1983; 3: 224–226. 6. Davies MS, Parker BC. Idiopathic hallux varus. Foot Ankle Int 1995; 16: 210–211. 7. Mestern J. Hallux varus congenitus und polydaktylie. Z Orthop 1933; 59: 563–582. 8. Jutur PS, Kumar CP, Goroshi S. Case report: Short rib polydactyly syndrome – type 2 (Majewski syndrome). Indian J Radiol Imaging 2010; 20: 138–142. 9. Farmer AW. Congenital hallux varus. Am J Surg 1958; 95: 274–278. 10. Daly-Jones E, Hassan J, Sepulveda W. Prenatal diagnosis of fetal bifid great toe. J Clin Ultrasound 1997; 25: 336–337. 11. Rao BV, Kerketta L, Korgaonkar S, Ghosh K. Pericentric inversion of chromosome 9 [inv(9)(p12q13]: Its association with genetic diseases. Int J Hum Genet 2006; 12: 129–132. 12. Ait-Allah AS, Ming PL, Salem HT, Reece EA. The clinical importance of pericentric inversion of chromosome 9 in prenatal diagnosis. J Matern Fetal Invest 1997; 7: 126–128. 13. Jeong SY, Kim BY, Yu JE. De novo pericentric inversion of chromosome 9 in congenital anomaly. Yonsei Med J 2010; 5: 775–780. 14. Ceylan G, Ceylan C, Yüce H. A rare seen case with homozygosity for pericentric inversion of chromosome 9 and primary infertility. Am J Case Rep 2008; 9: 385–388.

© 2014 The Author Journal of Obstetrics and Gynaecology Research © 2014 Japan Society of Obstetrics and Gynecology

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Prenatal diagnosis of congenital hallux varus deformity associated with pericentric inversion of chromosome 9.

Congenital hallux varus is a rare deformity of the great toe characterized by adduction of the hallux and medial displacement of the first metatarsoph...
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