[AEC syndrome: ankyloblepharon, ectodermal defect, cleft lip and palate (Hay-Wells syndrome)].
A 12 month-old female is described, with clinical features of AEC syndrome. This case is a novo mutation. Clinical diagnosis at an early age is emphasised to get a better management and genetic counseling. Also we review the literature.
Martínez y Martínez
R
R
Ornelas-Arana
M L
ML
Pérez-García
G
G
D002971:Cleft Lip / Q000235:genetics*; D002972:Cleft Palate / Q000235:genetics*; D004476:Ectodermal Dysplasia / Q000235:genetics*; D005143:Eyelids / Q000002:abnormalities*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D010641:Phenotype; D013577:Syndrome
Síndrome AEC: anquilobléfaron, defecto ectodérmico, labio y paladarhendido (síndrome Hay-Wells).