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Italian Journal of Pediatrics

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Open Access 01-12-2017 | Case report

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

Authors: Maria Klatka, Izabela Rysz, Katarzyna Kozyra, Agnieszka Polak, Witold Kołłątaj

Published in: Italian Journal of Pediatrics | Issue 1/2017

Abstract

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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Title: SHORT syndrome in a two-year-old girl – case report
Authors: Maria Klatka
Izabela Rysz
Katarzyna Kozyra
Agnieszka Polak
Witold Kołłątaj
Publication date: 01-12-2017
Publisher: BioMed Central
Published in: Italian Journal of Pediatrics / Issue 1/2017
Electronic ISSN: 1824-7288
DOI: https://doi.org/10.1186/s13052-017-0362-z

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

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

Abstract

Background

Case presentation

Conclusions

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

Abstract

Background

Case presentation

Conclusions

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