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HERO ID
3104958
Reference Type
Journal Article
Title
Rapp-Hodgkin syndrome with pili canaliculi
Author(s)
Camacho, F; Ferrando, J; Pichardo, AR; Sotillo, I; Jorquera, E
Year
1993
Is Peer Reviewed?
1
Journal
Pediatric Dermatology
ISSN:
0736-8046
EISSN:
1525-1470
Volume
10
Issue
1
Page Numbers
54-57
Language
English
PMID
8493170
Abstract
A 20-year-old woman and her 12-year-old brother had hypohidrotic ectodermal dysplasia, cleft lip and palate, midfacial hypoplasia with narrow nose from the nasal bridge to the tip, narrow dysplastic nails, and conical teeth and hypodontia, and hypospadias and hypoplastic uvula in the boy. The woman had major underdevelopment of intellectual capacity. The most important hair anomalies in both siblings were sparse eyebrows, pili torti, and pili canaliculi. Some of the pili canaliculi had two canals (pili bicanaliculi), and the cross section for scanning electron microscopy had a quadrangular aspect. This is the seventh family reported with Rapp-Hodgkin ectodermal dysplasia.
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