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Title: SHORT syndrome in an adult Brazilian patient
Authors: 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.affiliation: Universidade de Brasília
Assunto:: Síndrome SHORT
Resistência à insulina
Síndrome metabólica
Issue Date: 25-Jan-2022
Publisher: Wiley
Citation: 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: 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.
Appears in Collections:FMD - Artigos publicados em periódicos e preprints

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