SHORT syndrome in an adult Brazilian patient.
Am J Med Genet A
; 188(5): 1635-1638, 2022 05.
Article
en En
| MEDLINE
| ID: mdl-35080105
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.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Enfermedades Metabólicas
/
Nefrocalcinosis
Tipo de estudio:
Diagnostic_studies
Límite:
Adult
/
Humans
País/Región como asunto:
America do sul
/
Brasil
Idioma:
En
Revista:
Am J Med Genet A
Asunto de la revista:
GENETICA MEDICA
Año:
2022
Tipo del documento:
Article
País de afiliación:
Brasil