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首页> 外文期刊>Balkan journal of medical genetics: BJMG >FLOATING-HARBOR SYNDROME: PRESENTATION OF THE FIRST ROMANIAN PATIENT WITH A SRCAP MUTATION AND REVIEW OF THE LITERATURE
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FLOATING-HARBOR SYNDROME: PRESENTATION OF THE FIRST ROMANIAN PATIENT WITH A SRCAP MUTATION AND REVIEW OF THE LITERATURE

机译：浮港综合症：第一个罗马尼亚患者的讲述，具有SRCAP突变和审查文献

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摘要

Floating-Harbor syndrome (FHS) is a rare autosomal dominant syndrome characterized by short stature with delayed bone age, retarded speech development, intellectual disability and dysmorphic facial features. Recently, dominant mutations almost exclusively clustered in the final exon of the Snf2-related CREBBP activator protein (SRCAP) gene were identified to cause FHS. Here, we report a boy with short stature, speech delay, mild intellectual disability, dysmorphic features, and with genetically confirmed FHS. To the best of our knowledge, this is the first molecularly confirmed case with this syndrome reported in Romania. An intensive program of cognitive and speech stimulation, as well as yearly neurological, psychological, ophthalmological, otorhinolaryngological, pediatric and endocrinological monitoring for our patient were designed. We propose a checklist of clinical features suggestive of FHS, based on the main clinical features, in order to facilitate the diagnosis and clinical management of this rare condition.
机译：浮港综合征（FHS）是一种稀有的常染色体显性综合征，其特征在于骨骼时代延迟，延迟言论，智力残疾和疑虑面部特征。最近，鉴定了在SNF2相关的Crebbp活化剂蛋白（SRCAP）基因的最终外显子中几乎完全聚集在SNF2相关的Crebbp活化剂蛋白（SRCAP）基因中的显性突变以引起FHS。在这里，我们报告了一个身材矮小，言语延迟，轻度智力残疾，疑似特征的男孩，以及遗传证实的FHS。据我们所知，这是第一个在罗马尼亚报告这种综合征的分子证实案例。设计了一系列认知和语音刺激，以及我们患者的年鉴神经，心理学，眼科，耳鼻喉科，儿科和内分泌监测。我们提出了一种临床特征的清单，旨在根据主要临床特征提出FHS，以促进这种罕见的诊断和临床管理。

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