PT  - JOURNAL ARTICLE
AU  - Soekarman, D
AU  - Fryns, J P
TI  - Hypohidrotic ectodermal dysplasia, central nervous system malformation, and distinct facial features: confirmation of a distinct entity?
AID  - 10.1136/jmg.30.3.245
DP  - 1993 Mar 01
TA  - Journal of Medical Genetics
PG  - 245--247
VI  - 30
IP  - 3
4099  - http://jmg.bmj.com/content/30/3/245.short
4100  - http://jmg.bmj.com/content/30/3/245.full
SO  - J Med Genet1993 Mar 01; 30
AB  - 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.