Two sibs with cleft palate, ankyloblepharon, alveolar synechiae, and ectodermal defects: a new recessive syndrome?
Hay and Wells in 1976 reported seven patients from four families who had an inherited condition of which the main features were ankyloblepharon, ectodermal defects, and cleft lip and palate. The inheritance pattern was determined to be autosomal dominant. This condition is known as AEC syndrome or Hay-Wells syndrome. We report a family with two sibs showing some of these features and congenital adhesions between the upper and lower jaws (alveolar synechiae). There seems to be a recessive pattern of inheritance as neither of the parents has any features of the syndrome. This could be described as a recessive form of Hay-Wells syndrome with additional features or be named as a new syndrome.
Seres-Santamaria
A
A
Department of Genetics, Clínica Teknon, Barcelona, Spain.
Arimany
J L
JL
Muñiz
F
F
D000015:Abnormalities, Multiple; D002971:Cleft Lip; D002972:Cleft Palate; D004476:Ectodermal Dysplasia; D005143:Eyelids / Q000002:abnormalities*; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007223:Infant; D007569:Jaw Abnormalities; D008297:Male; D013577:Syndrome