Trichorrhexis nodosa and lip pits in autosomal dominant ectodermal dysplasia--central nervous system malformation syndrome.
Am J Med Genet
; 71(2): 226-8, 1997 Aug 08.
Article
en En
| MEDLINE
| ID: mdl-9217228
ABSTRACT
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.
Buscar en Google
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Anomalías Múltiples
/
Displasia Ectodérmica
/
Sistema Nervioso Central
/
Discapacidad Intelectual
Límite:
Child
/
Female
/
Humans
/
Middle aged
Idioma:
En
Revista:
Am J Med Genet
Año:
1997
Tipo del documento:
Article
País de afiliación:
Italia