一名两岁女童的SHORT综合征——病例报告
SHORT syndrome in a two-year-old girl - case report.
作者信息
Klatka Maria, Rysz Izabela, Kozyra Katarzyna, Polak Agnieszka, Kołłątaj Witold
机构信息
Department of Paediatric Endocrinology and Diabetology, Medical University of Lublin, Prof. Antoni Gebala Street 6, PL-20-093, Lublin, Poland.
Department of Endocrinology, Medical University of Lublin, Lublin, Poland.
出版信息
Ital J Pediatr. 2017 May 4;43(1):44. doi: 10.1186/s13052-017-0362-z.
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.
背景
SHORT综合征是一种罕见的遗传性先天性缺陷疾病。该疾病的发病率仍然未知。
病例报告
我们报告了一名患有SHORT综合征的两岁四个月大女性，她存在生长发育迟缓及畸形特征（三角形脸、前额突出、眼窝凹陷、腰部和肘部周围脂肪营养不良），与该综合征所描述的表型一致。分子分析显示PIK3R1基因第15外显子存在杂合变异c.1956dupT（p.Lys653*）。
结论
该疾病的发病率仍然未知；全球仅报道了几十例病例。
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