Document Detail

Rubinstein-Taybi syndrome (broad thumb-hallux syndrome).
MedLine Citation:
PMID:  15748572     Owner:  NLM     Status:  MEDLINE    
Rubinstein-Taybi syndrome is a rare genodermatosis with characteristic features that include downward sloping palphebral fissures, broad thumbs and halluces, and mental retardation. Dermatologic manifestations include capillary malformations, keloid formation, and pilomatricomas. Systemic features may involve the cardiac, audiologic, ophthalmologic, endocrine, neurologic, and respiratory systems. The syndrome is sporadic in nature and has been linked to microdeletion at 16p13.3 encoding CREB-binding protein gene (CREBBP).
Sherry H Hsiung
Publication Detail:
Type:  Case Reports; Journal Article     Date:  2004-11-30
Journal Detail:
Title:  Dermatology online journal     Volume:  10     ISSN:  1087-2108     ISO Abbreviation:  Dermatol. Online J.     Publication Date:  2004  
Date Detail:
Created Date:  2005-03-07     Completed Date:  2006-04-10     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9610776     Medline TA:  Dermatol Online J     Country:  United States    
Other Details:
Languages:  eng     Pagination:  2     Citation Subset:  IM    
Ronald O. Perelman Department of Dermatology, New York University, USA.
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MeSH Terms
Child, Preschool
Rubinstein-Taybi Syndrome / diagnosis*

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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