[Ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome, report of a case with variable expressivity].

Abstract

The ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome is a rare entity associated with mutations in the genes that express the protein p63. We present a case of a patient with right foot ectrodactyly associated with cleft lip and palate, without other evident anomalies. The patient has a positive familiar history for cleft lift and palate and mortality during the perinatal period. The management of each case must be specific and multidisciplinary.

• Authors: Luis Enrique Meza Escobar, Carolina Isaza, Harry Pachajoa
• Journal: Archivos argentinos de pediatria (Arch Argent Pediatr) Vol. 110 Issue 5 Pg. e95-8 (Oct 2012) ISSN: 1668-3501 [Electronic] Argentina
• Vernacular Title: Síndrome de ectrodactilia, displasia ectodérmica y fisura de labio/paladar, informe de un caso con expresividad variable.
• PMID: 23070194 (Publication Type: Case Reports, English Abstract, Journal Article)

Topics

• Cleft Lip (genetics)
• Cleft Palate (genetics)
• Ectodermal Dysplasia (genetics)
• Humans
• Infant, Newborn
• Limb Deformities, Congenital (genetics)
• Male
• Pedigree
• Phenotype
• Syndrome