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Article

Simpson-Golabi-Behmel syndrome types I and II.

Orphanet journal of rare diseases - 20 Sept 2014

Tenorio Jair, Arias Pedro, Martínez-Glez Víctor, Santos Fernando, García-Miñaur Sixto, Nevado Julián, Lapunzina Pablo

Abstract excerpt

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...

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Identifiers

PMID: 25238977
DOI: 10.1186/s13023-014-0138-0
PMCID: PMC4254265

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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