Jornal de Síndromes Genéticas e Terapia Gênica
Acesso livre

Abstrato

A Case of Complete Cutaneous Syndactyly of the Toes with Non-Syndromic Phenotype

Avina Fierro JA and Hernandez Avina DA

Cutaneous syndactyly is a malformed condition in which fingers are joined together. It is one of the most common hereditary limb malformations depicting the fusion of certain fingers and/or toes, and can involve the bones or just the skin. The type affecting the feet by the fusion of two or more toes may occur as an isolated entity with nonsyndromic phenotype or a component of many genetic syndromes: principally Apert, Carpenter, and Smith-Lemli- Opitz. We present the case of a healthy 2-year-old boy with a complete cutaneous syndactyly, bilateral and near symmetrical in both feet, which appears to represent a non-syndromic phenotype that is unclassified and previously undescribed.