Year : 2014  |  Volume : 2  |  Issue : 2  |  Page : 52-53

A rare case of ectrodactyly in a child in India

Department of Orthopaedic Surgery, Dr. Dnyandeo Yashwantrao Patil Medical College, Hospital and Research Center, Navi Mumbai, Maharashtra, India

Correspondence Address:
Mishil S Parikh
B/6, Anand Bhavan, Bajaj Road, Vile Parle (W), Mumbai - 400 056, Maharashtra
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/2319-2585.145601

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Ectrodactyly, termed split-hand/split-foot malformation (SHFM), is a rare genetic condition characterized by defects of the central elements of the autopod (hand/foot). Clinical presentation is with the absence of one or more median rays or digits creating cone-shaped clefts of the hands and/or feet. The present case of severe bilateral SHFM was presented in an 8-year-old girl in India. This case of SHFM involves the complete absence of the central rays of the autopod in which each of the hands and feet is divided into two parts by a cone-shaped cleft tapering proximally, resembling a "lobster claw." SHFM is often associated with other limb anomalies, including monodactyly, syndactyly and aplasia, and/or hypoplasia of the phalanges, metacarpals, and metatarsals. Most cases are sporadic; however, familial forms do exist with predominantly autosomal dominant inheritance. This case is an example of the non-syndromic form of SHFM expressed with isolated involvement of the limbs, while the syndromic form is associated with anomalies such as intellectual disability, ectodermal and craniofacial findings, and hearing loss. Non-syndromic isolated ectrodactyly does not usually require surgical intervention. We recommended against surgical reconstruction due to lack of evidence of functional disability.

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