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Simpson-Golabi-Behmel syndrome types I and II.
Orphanet J Rare Dis. 2014 Sep 20; 9:138.OJ

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.

Links

PMC Free PDF

Authors

Tenorio J
No affiliation info available
Arias P
No affiliation info available
Martínez-Glez V
No affiliation info available
Santos F
No affiliation info available
García-Miñaur S
No affiliation info available
Nevado J
No affiliation info available
Lapunzina P
No affiliation info available

MeSH

Abnormalities, MultipleArrhythmias, CardiacGenetic Diseases, X-LinkedGigantismHeart Defects, CongenitalHumansIntellectual DisabilityMutation

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't
Review

Language

eng

PubMed ID

25238977

Citation

Tenorio, Jair, et al. "Simpson-Golabi-Behmel Syndrome Types I and II." Orphanet Journal of Rare Diseases, vol. 9, 2014, p. 138.
Tenorio J, Arias P, Martínez-Glez V, et al. Simpson-Golabi-Behmel syndrome types I and II. Orphanet J Rare Dis. 2014;9:138.
Tenorio, J., Arias, P., Martínez-Glez, V., Santos, F., García-Miñaur, S., Nevado, J., & Lapunzina, P. (2014). Simpson-Golabi-Behmel syndrome types I and II. Orphanet Journal of Rare Diseases, 9, 138. https://doi.org/10.1186/s13023-014-0138-0
Tenorio J, et al. Simpson-Golabi-Behmel Syndrome Types I and II. Orphanet J Rare Dis. 2014 Sep 20;9:138. PubMed PMID: 25238977.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Simpson-Golabi-Behmel syndrome types I and II. AU - Tenorio,Jair, AU - Arias,Pedro, AU - Martínez-Glez,Víctor, AU - Santos,Fernando, AU - García-Miñaur,Sixto, AU - Nevado,Julián, AU - Lapunzina,Pablo, Y1 - 2014/09/20/ PY - 2014/07/11/received PY - 2014/08/25/accepted PY - 2014/9/21/entrez PY - 2014/9/23/pubmed PY - 2015/7/21/medline SP - 138 EP - 138 JF - Orphanet journal of rare diseases JO - Orphanet J Rare Dis VL - 9 N2 - 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. SN - 1750-1172 UR - https://www.unboundmedicine.com/medline/citation/25238977/Simpson_Golabi_Behmel_syndrome_types_I_and_II_ DB - PRIME DP - Unbound Medicine ER -