title: Simpson-Golabi-Behmel syndrome types I and II.
abstract: 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.
authors.forename: Jair
authors.initials: J
authors.lastname: Tenorio
authors.forename: Pedro
authors.initials: P
authors.lastname: Arias
authors.forename: Víctor
authors.initials: V
authors.lastname: Martínez-Glez
authors.forename: Fernando
authors.initials: F
authors.lastname: Santos
authors.forename: Sixto
authors.initials: S
authors.lastname: García-Miñaur
authors.forename: Julián
authors.initials: J
authors.lastname: Nevado
authors.forename: Pablo
authors.initials: P
authors.lastname: Lapunzina
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics* / Q000628:therapy; D001145:Arrhythmias, Cardiac / Q000175:diagnosis* / Q000235:genetics* / Q000628:therapy; D040181:Genetic Diseases, X-Linked / Q000175:diagnosis* / Q000235:genetics* / Q000628:therapy; D005877:Gigantism / Q000175:diagnosis* / Q000235:genetics* / Q000628:therapy; D006330:Heart Defects, Congenital / Q000175:diagnosis* / Q000235:genetics* / Q000628:therapy; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis* / Q000235:genetics* / Q000628:therapy; D009154:Mutation / Q000235:genetics