Abstract |
A 5-year-old boy with a history of a bifid uvula and a submucosal cleft palate presented for evaluation of brittle nails. The physical examination demonstrated cup-shaped ears, a broad nasal root, thin upper lip, mid-facial hypoplasia, coarse hair, and twenty-nail dystrophy. The clinical presentation of ectodermal dysplasia with cleft palate was consistent with Rapp-Hodgkin syndrome, which is one of several allelic diseases associated with mutations in the TP63 gene. The clinical manifestations of Rapp-Hodgkin as well as other ectodermal dysplasias with clefting are discussed.
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Authors | Gene Kim, Helen Shin |
Journal | Dermatology online journal
(Dermatol Online J)
Vol. 10
Issue 3
Pg. 23
(Nov 30 2004)
ISSN: 1087-2108 [Electronic] United States |
PMID | 15748593
(Publication Type: Case Reports, Journal Article)
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Topics |
- Abnormalities, Multiple
(diagnosis)
- Child, Preschool
- Craniofacial Abnormalities
- Hair
(abnormalities)
- Humans
- Male
- Nails, Malformed
- Syndrome
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