Abstract
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.
Highlights
Of the foot is a common congenital abnormality in which there is persistence of webbing between adjacent toes
Inheritance is thought to be autosomal dominant with variable penetrance and expressivity, with male predominance in half of the cases; the other cases correspond to a genetic sporadic appearance [3]
Novel mutations in the homeobox d13 (HOXD13) gene may be the cause of the different phenotype like this case of of all toes in both feet without characteristic craniofacial anomalies or any syndromic phenotype [8]
Summary
A Case of Complete Cutaneous Syndactyly of the Toes with Non-Syndromic Phenotype. Avina Fierro JA 1 and Hernandez Avina DA2 1 Dysmorphology Department, Pediatric Medical Center IMSS, Guadalajara, Mexico 2 Family Medicine, General Hospital #2 IMSS, Aguascalientes, Mexico.
Published Version
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