HYPERTRICHOSIS CUBITI WITH FACIAL ASYMMETRY

Citation
Mj. Edwards et al., HYPERTRICHOSIS CUBITI WITH FACIAL ASYMMETRY, American journal of medical genetics, 53(1), 1994, pp. 56-58
Citations number
16
Categorie Soggetti
Genetics & Heredity
ISSN journal
01487299
Volume
53
Issue
1
Year of publication
1994
Pages
56 - 58
Database
ISI
SICI code
0148-7299(1994)53:1<56:HCWFA>2.0.ZU;2-B
Abstract
Hypertrichosis of the elbow region may be the only abnormality in hype rtrichosis cubiti (hairy elbow syndrome). Only 6 cases have been repor ted; 2 Amish sibs also had additional short stature and, in the most r ecent case report, a patient had asymmetry of the face, generalized hy potonia, ptosis, epicanthic folds, highly arched palate, and delayed g rowth and development. The child reported here also had asymmetry of f acial growth, ptosis, delayed speech development, and hypertrichosis i n a patchy distribution which included the elbow regions, face, trunk, and thighs. There was no family history of hypertrichosis, and the ka ryotype of cultured fibroblasts was normal in the skin of an area of h ypertrichosis. These patients appear to have a distinct condition comp ared to other hypertrichosis syndromes. (C) 1994 Wiley-Liss, Inc.