Trichorrhexis nodosa and lip pits in autosomal dominant ectodermal dysplasia--central nervous system malformation syndrome.
A Dandy-Walker-like malformation was observed in a retarded girl who had signs of hidrotic ectodermal dysplasia. This is the third report of the rare triad ectodermal dysplasia-CNS malformation-mental retardation. We observed additional findings, such as submucous cleft palate with lip pits and trichorrhexis nodosa. The proposita's mother had similar hair and facial changes. Two maternal relatives had cleft palate. Autosomal dominant inheritance is suggested.
Silengo
M
M
Dipartimento di Scienze Pediatriche e dell'Adolescenza, Universita di Torino, Italy.
Pietragalla
A
A
Jarre
L
L
D000015:Abnormalities, Multiple / Q000235:genetics*; D002490:Central Nervous System / Q000002:abnormalities*; D002648:Child; D004476:Ectodermal Dysplasia / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant; D006197:Hair / Q000002:abnormalities; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008875:Middle Aged; D010375:Pedigree; D013577:Syndrome