Document Detail


Hypertrichosis "cubiti" with facial asymmetry.
MedLine Citation:
PMID:  7802037     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Hypertrichosis of the elbow region may be the only abnormality in hypertrichosis cubiti (hairy elbow syndrome). Only 6 cases have been reported; 2 Amish sibs also had additional short stature and, in the most recent case report, a patient had asymmetry of the face, generalized hypotonia, ptosis, epicanthic folds, highly arched palate, and delayed growth and development. The child reported here also had asymmetry of facial growth, ptosis, delayed speech development, and hypertrichosis in a patchy distribution which included the elbow regions, face, trunk, and thighs. There was no family history of hypertrichosis, and the karyotype of cultured fibroblasts was normal in the skin of an area of hypertrichosis. These patients appear to have a distinct condition compared to other hypertrichosis syndromes.
Authors:
M J Edwards; A E Crawford; V Jammu; G Wise
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  American journal of medical genetics     Volume:  53     ISSN:  0148-7299     ISO Abbreviation:  Am. J. Med. Genet.     Publication Date:  1994 Oct 
Date Detail:
Created Date:  1995-01-26     Completed Date:  1995-01-26     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  7708900     Medline TA:  Am J Med Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  56-8     Citation Subset:  IM    
Affiliation:
Newcastle and Northern New South Wales Genetics Service, Australia.
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MeSH Terms
Descriptor/Qualifier:
Elbow
Facial Asymmetry / complications*,  genetics
Female
Humans
Hypertrichosis / complications*,  genetics
Infant, Newborn
Language Development Disorders / genetics
Mosaicism

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