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

ABSTRACT: SHORT syndrome is a rare genetic congenital defects condition. The frequency of the disease still remains unknown.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.The frequency of the disease still remains unknown; solely several dozen cases have been described worldwide.

SUBMITTER: Klatka M

PROVIDER: S-EPMC5418728 | biostudies-literature | 2017 May

REPOSITORIES: biostudies-literature

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

Klatka Maria M Rysz Izabela I Kozyra Katarzyna K Polak Agnieszka A Polak Agnieszka A Kołłątaj Witold W

Italian journal of pediatrics 20170504 1

<h4>Background</h4>SHORT syndrome is a rare genetic congenital defects condition. The frequency of the disease still remains unknown.<h4>Case presentation</h4>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 ...[more]

PMID: 28472977

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