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Börjeson-Forssman-Lehmann Syndrome 

Börjeson-Forssman-Lehmann Syndrome
Chapter:
Börjeson-Forssman-Lehmann Syndrome
Author(s):

Joanna Crawford

, Michael Partington

, Mark Corbett

, Karen Lower

, and Jozef Gécz

DOI:
10.1093/med/9780195300161.003.0010
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date: 17 May 2021

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.

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