Archivos argentinos de pediatría
versión impresa ISSN 0325-0075
MEZA ESCOBAR, Luis Enrique; ISAZA, Carolina y PACHAJOA, Harry. Ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome, report of a case with variable expressivity. Arch. argent. pediatr. [online]. 2012, vol.110, n.5, pp. e95-e98. ISSN 0325-0075.
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.
Palabras clave : EEC syndrome; Ectrodactyly; Ectodermal dysplasia; Cleft lip/palate syndrome; Prenatal diagnosis; Genetic counseling.