SHORT syndrome in a two-year-old girl – case report

BACKGROUND: SHORT syndrome is a rare genetic congenital defects condition. The frequency of the disease still remains unknown. CASE PRESENTATION: We report the two-year-four-month old female with SHORT syndrome who present growth retardation and dysmorphic features (triangular-shaped face, prominent...

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Detalles Bibliográficos
Autores principales: Klatka, Maria, Rysz, Izabela, Kozyra, Katarzyna, Polak, Agnieszka, Kołłątaj, Witold
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5418728/
https://www.ncbi.nlm.nih.gov/pubmed/28472977
http://dx.doi.org/10.1186/s13052-017-0362-z
Descripción
Sumario:BACKGROUND: SHORT syndrome is a rare genetic congenital defects condition. The frequency of the disease still remains unknown. CASE PRESENTATION: We report the two-year-four-month old female with SHORT syndrome who present growth retardation and dysmorphic features (triangular-shaped face, prominent forehead, ocular depression, lipodystrophy at the lumbar region and around elbows), consistent with the phenotype described for this syndrome. The molecular analysis showed the presence of heterozygous variant c.1956dupT (p.Lys653*) in exon 15 of PIK3R1. CONCLUSIONS: The frequency of the disease still remains unknown; solely several dozen cases have been described worldwide.

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