Hypohidrotic ectodermal dysplasia, central nervous system malformation, and distinct facial features: confirmation of a distinct entity?
Internal hydrocephalus with partial hypoplasia of the cerebellum was observed in a severely mentally retarded boy who showed signs of ectodermal dysplasia. Diagnostic considerations are discussed. Reports of the triad mental retardation-CNS malformation-ectodermal dysplasia are rare. In 1989 we reported a case with these signs that shows a striking facial similarity to the case presented here.
Soekarman
D
D
Centre for Human Genetics, University of Leuven, Belgium.
Fryns
J P
JP
D001921:Brain / Q000002:abnormalities*; D004476:Ectodermal Dysplasia / Q000175:diagnosis* / Q000235:genetics; D005147:Facial Bones / Q000002:abnormalities*; D005500:Follow-Up Studies; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D010855:Pierre Robin Syndrome / Q000235:genetics; D013577:Syndrome