SHORT syndrome in an adult Brazilian patient

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 pre...

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Bibliographic Details
Published in:American journal of medical genetics. Part A 2022-05, Vol.188 (5), p.1635-1638
Main Authors: 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.
Format: Article
Language:English
Subjects:
Adult
Brazil
Class Ia Phosphatidylinositol 3-Kinase - genetics
Diagnosis
Genotypes
Growth Disorders
Growth hormones
Hernia
Humans
Hypercalcemia
insulin resistance
Intellectual disabilities
Metabolic Diseases
Microcephaly
Nephrocalcinosis - diagnosis
Nephrocalcinosis - genetics
Patients
Phenotype
Phenotypes
PIK3R1
progeroid appearance
short stature
SHORT syndrome
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Summary: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.
ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.62660