Floating-Harbor syndrome presentation of the first Romanian patient with a SRCAP mutation and review of the literature
Magdalena Budisteanu1,2, Nina Bögershausen3, Sorina Mihaela Papuc2, Shahida Moosa3, Michaela Thoenes4, Dan Riga1, Aurora Arghir2, Bernd Wollnik3
*Corresponding Author: Aurora Arghir, MD, PhD, Victor Babes National Institute of Pathology Medical Genetics Laboratory 99-101 Splaiul Independentei, Zip code 050096 Bucharest, Romania E-mail: aurora.arghir@ivb.ro Phone/fax: +4 021 319 27 32, ext 207/ +4 021 319 45 28
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Abstract

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 our knowledge the first molecularly confirmed case with this syndrome reported in Romania. An intensive program of cognitive and speech stimulation, as well as yearly neurologic, psychologic, ophthalmologic, otorhinolaryngologic, pediatric and endocrinologic 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.



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