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Distinctive findings in a boy with Simpson-Golabi-Behmel syndrome



Distinctive findings in a boy with Simpson-Golabi-Behmel syndrome



American Journal of Medical Genetics. Part a 170a(4): 1035-1039



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.

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Accession: 057641822

Download citation: RISBibTeXText

PMID: 26692054

DOI: 10.1002/ajmg.a.37518


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