EEC syndrome without ectrodactyly: report of two new families.
In this report we describe two families with variable manifestations of the EEC syndrome. The findings in these families confirm that no symptom is obligatory for the diagnosis of EEC syndrome. In the absence of cleft lip/palate, EEC patients have a characteristic facial morphology with maxillary hypoplasia, short philtrum, and broad nasal tip.
Fryns
J P
JP
Centre for Human Genetics, University of Leuven, Belgium.
Legius
E
E
Dereymaeker
A M
AM
Van den Berghe
H
H
D000328:Adult; D000848:Anodontia / Q000175:diagnosis / Q000235:genetics; D002675:Child, Preschool; D005149:Facial Expression; D005260:Female; D005532:Foot Deformities, Congenital / Q000175:diagnosis / Q000235:genetics*; D006228:Hand Deformities, Congenital / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D013577:Syndrome