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Type: Book chapter
Title: Börjeson-Forssman-Lehmann Syndrome
Other Titles: Borjeson-Forssman-Lehmann Syndrome
Author: Crawford, J.
Partington, M.
Corbett, M.
Lower, K.
Gecz, J.
Citation: Genetics of Obesity Syndromes, 2009 / Beales, P., Farooqi, I., O'Rahilly, S. (ed./s), Ch.10, pp.187-200
Publisher: Oxford University Press
Publisher Place: New York
Issue Date: 2009
ISBN: 9780195300161
Editor: Beales, P.
Farooqi, I.
O'Rahilly, S.
Statement of
Joanna Crawford, Michael Partington, Mark Corbett, Karen Lower, and Jozef Gécz
Abstract: 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.
DOI: 10.1093/med/9780195300161.003.0010
Appears in Collections:Aurora harvest 2
Paediatrics publications

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