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Distinctive findings in a boy with Simpson–Golabi–Behmel syndrome
Author(s) -
Halayem Soumeyya,
Hamza Mariem,
Maazoul Faouzi,
Ben Turkia Hadhemi,
Touati Maissa,
Tebib Neji,
Mrad Ridha,
Bouden Asma
Publication year - 2016
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.37518
Subject(s) - phenotype , psychology , intellectual disability , exon , medicine , pediatrics , psychiatry , genetics , gene , biology
Simpson–Golabi–Behmel syndrome (SGBS) is an X‐linked condition characterized by pre and post natal overgrowth, facial malformations, and visceral, skeletal, and neurological anomalies. The physical characteristics of SGBS have been well documented; however there is a lack of description regarding the behavioral phenotype. We report the case of a 6‐year‐old boy, with confirmed deletion of 6–8 exons of the glypican‐3 gene ( GPC3 ) who presents three distinctive findings: the persistence of the craniopharyngeal canal, an immune‐allergic specificity, and a scarcely behavioral phenotype consisting in the association of Austim Spectrum Disorder with accompanying mild intellectual disability and language impairments. He also fulfilled the criteria of Attention Deficit Hyperactivity Disorder and Oppositional Defiant Disorder according to DSM 5 criteria. The specificities of the case are discussed in the light of recent pathophysiological data. © 2015 Wiley Periodicals, Inc.