Document Detail

The clinical picture of the Börjeson-Forssman-Lehmann syndrome in males and heterozygous females with PHF6 mutations.
MedLine Citation:
PMID:  14756673     Owner:  NLM     Status:  MEDLINE    
The usual description of the Börjeson-Forssman-Lehmann syndrome (BFLS) is that of a rare, X-linked, partially dominant condition with severe intellectual disability, epilepsy, microcephaly, coarse facial features, long ears, short stature, obesity, gynecomastia, tapering fingers, and shortened toes. Recently, mutations have been identified in the PHF6 gene in nine families with this syndrome. The clinical history and physical findings in the affected males reveal that the phenotype is milder and more variable than previously described and evolves with age. Generally, in the first year, the babies are floppy, with failure to thrive, big ears, and small external genitalia. As schoolboys, the picture is one of learning problems, moderate short stature, with emerging truncal obesity and gynecomastia. Head circumferences are usually normal, and macrocephaly may be seen. Big ears and small genitalia remain. The toes are short and fingers tapered and malleable. In late adolescence and adult life, the classically described heavy facial appearance emerges. Some heterozygous females show milder clinical features such as tapering fingers and shortened toes. Twenty percent have significant learning problems, and 95% have skewed X inactivation. We conclude that this syndrome may be underdiagnosed in males in their early years and missed altogether in isolated heterozygous females.
G Turner; K M Lower; S M White; M Delatycki; A K Lampe; M Wright; J Clayton Smith; B Kerr; S Schelley; H E Hoyme; B B A De Vries; T Kleefstra; M Grompe; B Cox; J Gecz; M Partington
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Clinical genetics     Volume:  65     ISSN:  0009-9163     ISO Abbreviation:  Clin. Genet.     Publication Date:  2004 Mar 
Date Detail:
Created Date:  2004-02-03     Completed Date:  2004-11-22     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  0253664     Medline TA:  Clin Genet     Country:  Denmark    
Other Details:
Languages:  eng     Pagination:  226-32     Citation Subset:  IM    
Hunter Genetics and University of Newcastle, New South Wales, Australia.
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MeSH Terms
Abnormalities, Multiple / genetics*
Failure to Thrive / genetics
Genetic Diseases, X-Linked*
Mental Retardation / genetics
Muscle Hypotonia / genetics
Musculoskeletal Abnormalities / genetics

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