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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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
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author Klatka, Maria
Rysz, Izabela
Kozyra, Katarzyna
Polak, Agnieszka
Kołłątaj, Witold
author_facet Klatka, Maria
Rysz, Izabela
Kozyra, Katarzyna
Polak, Agnieszka
Kołłątaj, Witold
author_sort Klatka, Maria
collection PubMed
description 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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spelling pubmed-54187282017-05-08 SHORT syndrome in a two-year-old girl – case report Klatka, Maria Rysz, Izabela Kozyra, Katarzyna Polak, Agnieszka Kołłątaj, Witold Ital J Pediatr 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 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. BioMed Central 2017-05-04 /pmc/articles/PMC5418728/ /pubmed/28472977 http://dx.doi.org/10.1186/s13052-017-0362-z Text en © The Author(s). 2017 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
spellingShingle Case Report
Klatka, Maria
Rysz, Izabela
Kozyra, Katarzyna
Polak, Agnieszka
Kołłątaj, Witold
SHORT syndrome in a two-year-old girl – case report
title SHORT syndrome in a two-year-old girl – case report
title_full SHORT syndrome in a two-year-old girl – case report
title_fullStr SHORT syndrome in a two-year-old girl – case report
title_full_unstemmed SHORT syndrome in a two-year-old girl – case report
title_short SHORT syndrome in a two-year-old girl – case report
title_sort short syndrome in a two-year-old girl – case report
topic Case Report
url 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
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AT polakagnieszka shortsyndromeinatwoyearoldgirlcasereport
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