Document Detail

Overlap between Baller-Gerold and Rothmund-Thomson syndrome.
MedLine Citation:
PMID:  11045594     Owner:  NLM     Status:  MEDLINE    
We report a male patient with craniosysnostosis, bilateral radial and ulnar hypoplasia, absent thumbs, poikiloderma, and short stature. His parents are first cousins. Although this patient was originally diagnosed as having Baller-Gerold syndrome it is more likely that he has Rothmund-Thomson syndrome or a similar disorder. This report confirms the overlap between these two syndromes, and that Baller-Gerold syndrome is essentially a diagnosis of exclusion.
A Mégarbané; I Melki; N Souraty; J Gerbaka; V El Ghouzzi; J Bonaventure; A Mornand; J Loiselet
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Publication Detail:
Type:  Case Reports; Letter; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Clinical dysmorphology     Volume:  9     ISSN:  0962-8827     ISO Abbreviation:  Clin. Dysmorphol.     Publication Date:  2000 Oct 
Date Detail:
Created Date:  2001-01-22     Completed Date:  2001-02-01     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  9207893     Medline TA:  Clin Dysmorphol     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  303-5     Citation Subset:  IM    
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MeSH Terms
Abnormalities, Multiple / pathology*
Body Height
Craniosynostoses / pathology
Infant, Newborn
Radius / pathology
Rothmund-Thomson Syndrome / pathology
Ulna / pathology

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