Ectrodactyly: the ‘lobster claw’ anomaly – rare report of an indian family demonstrating autosomal dominant inherittance pattern
Journal Title: INTERNATIONAL JOURNAL OF CURRENT RESEARCH - Year 2016, Vol 8, Issue 11
Abstract
Ectrodactyly [Split hand/foot malformation (SHFM) or cleft hand or claw hand or lobster anomaly or central ray deficiency] is a limb malformation involving central rays of autopod and presenting with median clefts of hand and feet, hypoplasia/ aplasia of phalanges or metacarpals or metatarsals and variable syndactyly. It can occur either as part of a syndrome like EEC (ectrodactyly-ectodermal dysplasia-cleft syndrome) or isolated non-syndromic malformation. Inheritance pattern is autosomal dominant with variable penetration. Likely pathogenic mechanism is failure of defects in median apical ectodermal ridge activity. Here we are reporting autosoal dominant non-syndromic ectrodactyly (with syndactyly and transverse bone) in an Indian family due to rarity of incidence.
Authors and Affiliations
Muhammed Basheer, K. T. , Sunil Kumar Agarwalla. , Pulak Ranjan Mallik and Subhrajit Parida Subhrajit Parida
Keywords
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