Article
SHORT syndrome in an adult Brazilian patient.
American journal of medical genetics. Part A - 1 May 2022
Gonçalves Ana Caroline G, Moretti Patricia N, Cordoba Mara S, Oliveira Renata S, Lopes Fernanda S C, Oliveira Silviene F, Pic-Taylor Aline, Castro Luiz Claudio, Mazzeu Juliana F
Abstract excerpt
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....
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