Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2019
[Floating-Harbor syndrome: a case report and literature review].
Клинический случайСтатьяОбзорНазвание и аннотация: Перевод в очереди
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Li Rong-Min, Lu Ya-Chao, Li Zhen, Wang Jie-Ying, Chang Jie, Lei Shu-Qin, Zeng Qiao, Sang Yan-Mei
Аннотация
Floating-Harbor syndrome (FHS) is an autosomal dominant genetic disease caused by SRCAP mutation. This article reports the clinical features of a boy with FHS. The boy, aged 11 years and 7 months, attended the hospital due to short stature for more than 8 years and had the clinical manifestations of unusual facial features (triangularly shaped face, thin lips and long eyelashes), skeletal dysplasia (curvature finger), expressive language disorder, and retardation of bone age. Genetic detection revealed a novel heterozygous mutation, c.7330 C>T(p.R2444X), in the SRCAP gene. The boy was diagnosed with FHS based on these clinical manifestations and gene detection results. FHS is rare in clinical practice, which may lead to missed diagnosis and misdiagnosis, and gene detection may help with the clinical diagnosis of FHS in children.