[Ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome, report of a case with variable expressivity].
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.
Facultad de Ciencias de la Salud, Universidad Icesi, Cali, Colombia. lemeza@icesi.edu.co
Luis Enrique
LE
Meza Escobar
Carolina
C
Isaza
Harry
H
Pachajoa
D002971:Cleft Lip / Q000235:genetics*; D002972:Cleft Palate / Q000235:genetics*; D004476:Ectodermal Dysplasia / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D017880:Limb Deformities, Congenital / Q000235:genetics*; D008297:Male; D010375:Pedigree; D010641:Phenotype; D013577:Syndrome