Open AccessSíndrome de ectrodactilia, displasia ectodérmica y fisura de labio/paladar, informe de un caso con expresividad variable
Author(s) -
Luis Enrique Meza Escobar,
Carolina Isaza,
Harry Pachajoa
Publication year - 2012
Publication title -
archivos argentinos de pediatría
Language(s) - Spanish
Resource type - Journals
SCImago Journal Rank - 0.236
H-Index - 19
eISSN - 1668-3501
pISSN - 0325-0075
DOI - 10.5546/aap.2012.e95
Subject(s) - ectrodactyly , medicine , ectodermal dysplasia , orthodontics , dermatology
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.