Radial aplasia with oligodactyly

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Letter to the Editor Williams MS, et al. CHARGE association: An update and review for the primary pediatrician. Clin Pediatr (Phila) 1998;37:159-73. Amiel J, Attiee-Bitach T, Marianowski R. Temporal bone anomaly proposed as a major criteria for diagnosis of CHARGE syndrome. Am J Med Genet 2001;99:124-7. Al Frayh AR, Haque KN. Anophthalmia, microcephaly, hypotonia, hypogonadism, failure to thrive and developmental delay. Dysmorphol Clin Genet 1987;1:64-6. Lenz W. Recessivgeschlechtsgebundene Mikrophthalmie mit multiplen Missbildungen. Z Kinderheilkd 1955;77:384. Hermann J, Opitz JM. The Lenz microphthalmia syndrome.

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BD: OAS 1969;5:138-43. 10. Krishnamurthy MS, Urban RC Jr, Kousseff BG, Margo CE. Lenz syndrome in two sisters: Clinicopathologic correlations of the ocular anomalies. J Pediatr Ophthalmol Strabismus 1998;35:96-9. 11. Traboulsi EI, Lenz W, Gonzales-Ramos M, Siegel J, Macrae W, Maumenee I. The Lenz microphthalmia syndrome. Am J Ophthalmol 1988;105:40-5. Source of Support: Andre Megarbane, Conßict of Interest: None declared.

Radial aplasia with oligodactyly Panigrahi Inusha, Kulkarni Ketan Prasad Genetic and Metabolic Unit, Department of Pediatrics, Advanced Pediatric Center, PGIMER, Chandigarh, India

Sir, A 15-month-old female child presented with bilateral upper limb deformity. She was born of a non-consanguineous marriage between a 23-year-old mother and 25-year-old father and was delivered by a normal vaginal delivery at 39 weeks of gestation. There was no history of drug intake in early gestation or of antenatal radiation exposure. On examination, there was mesomelic shortening of the forearms, skin dimpling, and oligodactyly, with absence of movement at the elbows [Figure 1 and 2a]. There were no other

Figure 1: Face and hands showing no signiÞcant dysmorphism, mesomelic shortening of upper limbs, and oligodactyly

dysmorphic features, and the child was developmentally and neurologically normal. The platelet count was 274.0 × 109/L. The skiagram of upper limbs revealed humeroulnar fusion, ulnar campomelia, absent radius, and oligodactyly [Figure 2b]. Radial aplasia with oligodactyly has been described in the Al-Awadi / Rothschild syndrome / Schinzel phocomelia syndrome which has a wide clinical spectrum.[1] However, humeroradial and humeroulnar synostosis has been described only in the Schinzel phocomelia spectrum of disorders.[2] Hence, our patient is either a variant of this

Figure 2a: Left upper limb showing short forearm, small hand, absence of thumb, and presence of only three Þngers

Address for Correspondence: Inusha Panigrahi, Genetic and Metabolic Unit, Advanced Pediatric Center, PGIMER, Sec-12, Chandigarh, India. E-mail: [email protected]

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Letter to the Editor

reduction defects, their varied prognosis, and the need for multidisciplinary management, it is essential to provide appropriate genetic counseling. Antenatal diagnosis can be offered to the families in selected situations. References

Figure 2b: X-ray of the upper limb revealing absence of radius, bowed ulna, and humeroulnar synostosis

syndrome or an entirely new entity. Mutations in WNT7A, HOXD13, and GLI3 genes have been described in the genesis of such limb malformations.[3] In view of the clinical variability in the presentation of such complex limb

1. Online Mendelian Inheritance in Man. OMIM (TM). Mckusick-Nathans Institute for Genetic Medicine, John Hopkins University (Baltimore, MD) and National Center for Biotechnology Information. Bethesda, MD: National Library of Medicine; accessed June 2008. 2. Musa AA. Humeroulnar synostosis: Case report. East Afr Med J 2004;81:492. 3. Woods CG, Stricker S, Seeman P, Stern R, Cox J, Sherridan E. Mutations in WNT7A cause a range of limb malformations, including fuhrmann syndrome and AlAwadi-Raas-rothschild-Schinzel Phocomelia Syndrome. Am J Med Genet 2006;79:402-8.

Source of Support: Nil, Conßict of Interest: None declared.

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