| Autor: |
Maria Klatka, Izabela Rysz, Katarzyna Kozyra, Agnieszka Polak, Witold Kołłątaj |
| Jazyk: |
angličtina |
| Rok vydání: |
2017 |
| Předmět: |
|
| Zdroj: |
Italian Journal of Pediatrics, Vol 43, Iss 1, Pp 1-7 (2017) |
| Druh dokumentu: |
article |
| ISSN: |
1824-7288 |
| DOI: |
10.1186/s13052-017-0362-z |
| Popis: |
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. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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