Chapter

Börjeson-Forssman-Lehmann Syndrome

Joanna Crawford, Michael Partington, Mark Corbett, Karen Lower and Jozef Gécz

in Genetics of Obesity Syndromes

Published on behalf of Oxford University Press

Published in print July 2009 | ISBN: 9780195300161
Published online October 2012 | e-ISBN: 9780199975198 | DOI: http://dx.doi.org/10.1093/med/9780195300161.003.0010

Series: Oxford Monographs on Medical Genetics

Börjeson-Forssman-Lehmann Syndrome

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Constitutional obesity and intellectual disability occur in several multiple anomaly syndromes, including Börjeson-Forssman-Lehmann syndrome (BFLS). Obesity is one of the central features of BFLS and is presumably caused by the same defect that results in intellectual disability and the range of other features that characterize this condition. As the syndromic mental retardation (MR) disorders overlap in much of their clinical presentation, it is important to delineate the distinct behavioral and phenotypic characteristics of individual syndromes in order to achieve the correct clinical diagnosis. Some of the clinical features that raise a BFLS diagnosis are very similar to those seen in other obesity-related syndromes such as Prader-Willi, Wilson-Turner, Coffin-Lowry, Bardet-Biedl, Cohen, and Klinefelter syndromes. However, there are some distinctive characteristics of BFLS that may help to differentiate this disorder from other syndromes.

Chapter.  4658 words.  Illustrated.

Subjects: Clinical Genetics ; Endocrinology and Diabetes

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