Titre:	SHORT syndrome in an adult Brazilian patient
Auteur(s):	Gonçalves, Ana Caroline Gabriel Moretti, Patricia Natália Silva Cordoba, Mara Santos Oliveira, Renata Santarem de Lopes, Fernanda Sousa Cardoso Oliveira, Silviene Fabiana de Pic-Taylor, Aline Castro, Luiz Claudio Araújo, Juliana Forte Mazzeu de
metadata.dc.contributor.email:	mailto:julianamazzeu@unb.br
metadata.dc.identifier.orcid:	https://orcid.org/0000-0002-5121-8814 https://orcid.org/0000-0002-6161-0510
metadata.dc.contributor.affiliation:	Universidade de Brasília
Assunto::	Síndrome SHORT Resistência à insulina Síndrome metabólica
Date de publication:	25-jan-2022
Editeur:	Wiley
Référence bibliographique:	GONÇALVES, Ana Caroline G. et al. SHORT syndrome in an adult Brazilian patient. American journal of medical genetics, v. 188, n. 5, p. 1635-1638, maio 2022. DOI 10.1002/ajmg.a.62660. Disponível em: https://onlinelibrary.wiley.com/doi/full/10.1002/ajmg.a.62660. Acesso em: 02 ago. 2022.
Abstract:	We report an individual from Brazil with SHORT syndrome. The term SHORT stands for its common characteristics: short stature (S), hyperextensibility of joints, and/or inguinal hernia (H), ocular depression (O), Rieger anomaly (R), and teething delay (T). In addition to most of the clinical signs previously described in SHORT syndrome, the patient presented here also shows microcephaly and intellectual disability. Diagnosis was confirmed by exome sequencing revealing a novel heterozygous variant c.1456G>A (p.Ala486Thr) at PIK3R1. Human recombinant growth hormone (r-hGH) therapy was administered prior to diagnosis; however, the use of r-hGH may have had a role in anticipating and worsening the glucose metabolic profile in the patient, as previously described. This article contributes to providing a better understanding of the SHORT syndrome genotype and its correlation with the phenotype, by comparing with it other reported cases.
metadata.dc.description.unidade:	Faculdade de Medicina (FM)
DOI:	https://doi.org/10.1002/ajmg.a.62660
metadata.dc.relation.publisherversion:	https://onlinelibrary.wiley.com/doi/full/10.1002/ajmg.a.62660
Collection(s) :	Artigos publicados em periódicos e afins

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