[Floating-Harbor syndrome: a case report and literature review]

التفاصيل البيبلوغرافية
العنوان: [Floating-Harbor syndrome: a case report and literature review]
المؤلفون: Rong-Min, Li, Ya-Chao, Lu, Zhen, Li, Jie-Ying, Wang, Jie, Chang, Shu-Qin, Lei, Qiao, Zeng, Yan-Mei, Sang
المصدر: Zhongguo Dang Dai Er Ke Za Zhi
سنة النشر: 2019
مصطلحات موضوعية: Adenosine Triphosphatases, Craniofacial Abnormalities, Heart Septal Defects, Ventricular, Male, 论著·临床研究, Humans, Abnormalities, Multiple, Child, Growth Disorders
الوصف: 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.
تدمد: 1008-8830
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::93329134cd7cb33555db51789ae6f99a
https://pubmed.ncbi.nlm.nih.gov/31874661
Rights: OPEN
رقم الانضمام: edsair.pmid..........93329134cd7cb33555db51789ae6f99a
قاعدة البيانات: OpenAIRE