Budisteanu M, Bögershausen N, Papuc S M, Moosa S, Thoenes M, Riga D, Arghir A, Wollnik B
Professor Dr. Alex Obregia Clinical Hospital of Psychiatry, Bucharest, Romania.
Victor Babes National Institute of Pathology, Bucharest, Romania.
Balkan J Med Genet. 2018 Oct 29;21(1):83-86. doi: 10.2478/bjmg-2018-0005. eCollection 2018 Jun.
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 () 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.
弗洛廷-哈伯综合征（FHS）是一种罕见的常染色体显性综合征，其特征为身材矮小且骨龄延迟、语言发育迟缓、智力障碍以及面部畸形特征。最近，几乎所有显性突变都聚集在与Snf2相关的CREBBP激活蛋白（）基因的最后一个外显子中，这些突变被确定为导致FHS的原因。在此，我们报告一名患有身材矮小、语言发育迟缓、轻度智力障碍、畸形特征且基因确诊为FHS的男孩。据我们所知，这是罗马尼亚报道的首例经分子确诊的该综合征病例。我们为患者设计了强化的认知和语言刺激方案，以及每年进行的神经学、心理学、眼科、耳鼻喉科、儿科和内分泌学监测。基于主要临床特征，我们提出了一份提示FHS的临床特征清单，以便于对这种罕见病症进行诊断和临床管理。
