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Rapp-Hodgkin syndrome.

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.
AuthorsGene Kim, Helen Shin
JournalDermatology online journal (Dermatol Online J) Vol. 10 Issue 3 Pg. 23 (Nov 30 2004) ISSN: 1087-2108 [Electronic] United States
PMID15748593 (Publication Type: Case Reports, Journal Article)
Topics
  • Abnormalities, Multiple (diagnosis)
  • Child, Preschool
  • Craniofacial Abnormalities
  • Hair (abnormalities)
  • Humans
  • Male
  • Nails, Malformed
  • Syndrome

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