A case of ectrodactyly in a neonate.

J Clin Neonatol

Department of Pediatrics, PDU Medical College, Rajkot, Gujarat, India.

Published: July 2013

Ectrodactyly also known as Split hand/foot malformation is a rare limb malformation with autosomal dominant in heritance with variable penetrance, commonly known as "lobster claw hand". Usually it involves midline clefts of the hands and feet with syndactyly. We report a neonate with ectrodactyly and brief review of literature of condition.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3830155PMC
http://dx.doi.org/10.4103/2249-4847.120013DOI Listing

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EEC syndrome is an autosomal dominant genetic disease with incomplete penetrance characterized by ectrodactyly, ectodermal dysplasia, and cleft lip/palate; these manifestations can differently occur in the affected subjects and can also be associated with other anomalies, such as in the urogenital tract.We reported the case of a newborn with prenatal diagnosis of EEC type 3 associated with severe cardiac abnormalities (Tetralogy of Fallot), high esophageal atresia with fistula and penoscrotal hypospadias.

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