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Simpson-Golabi-Behmel syndrome types I and II



Simpson-Golabi-Behmel syndrome types I and II



Orphanet Journal of Rare Diseases 9: 138



Simpson-Golabi-Behmel syndrome (SGBS) is a rare overgrowth syndrome clinically characterized by multiple congenital abnormalities, pre/postnatal overgrowth, distinctive craniofacial features, macrocephaly, and organomegaly. Abnormalities of the skeletal system, heart, central nervous system, kidney, and gastrointestinal tract may also be observed. Intellectual disability, early motor milestones and speech delay are sometimes present; however, there are a considerable number of individuals with normal intelligence.

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Accession: 055783045

Download citation: RISBibTeXText

PMID: 25238977

DOI: 10.1186/s13023-014-0138-0


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