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Trichorrhexis Nodosa and lip pits in autosomal dominant ectodermal dysplasia—central nervous system malformation syndrome

✍ Scribed by Silengo, Margherita; Pietragalla, Anna; Jarre, Laura

Publisher: John Wiley and Sons
Year: 1997
Tongue: English
Weight: 14 KB
Volume: 71
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19970808)71:2<226::aid-ajmg21>3.0.co;2-f

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✦ Synopsis

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.

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