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29 de nov. de 2023 · Clinical characteristics. Floating-Harbor syndrome (FHS) is characterized by typical craniofacial features; low birth weight, normal head circumference, and short stature; bone age delay that normalizes between ages six and 12 years; skeletal anomalies (brachydactyly, clubbing, clinodactyly, short thumbs, prominent joints, clavicular abnormalities); severe receptive and expressive language ...
27 de oct. de 2009 · Floating-Harbor syndrome in a Kuwaiti patient: a case report and literature review. East Mediterr Health J 2007; 13: 975-979. Feingold M. Thirty-two year follow-up of the first patient reported with the Floating-Harbor syndrome. Am J Med Genet A 2006; 140: 782-784.
18 de may. de 2022 · Introduction: Floating Harbor syndrome (FHS) is an extremely rare disorder, with slightly more than a hundred cases reported worldwide. FHS is caused by heterozygous mutations in the SRCAP gene; however, little is known about the pathogenesis of FHS or the effectiveness of its treatment.Methods: Whole-exome sequencing (WES) was performed for the definitive molecular diagnosis of the disease.
El síndrome de Floating-Harbor es una condición rara con alrededor de 100 individuos reportados en la literatura médica. El gen para el síndrome de Floating-Harbor solo se identificó en 2012. Hasta este momento, se realizó un diagnóstico del síndrome de Floating-Harbor basado solo en las características clínicas de la afección.
12 de dic. de 2019 · 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 ...
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27 de abr. de 2013 · Floating-Harbor syndrome (FHS) is a rare condition characterized by short stature, delays in expressive language, and a distinctive facial appearance. Recently, heterozygous truncating mutations in SRCAP were determined to be disease-causing. With the availability of a DNA based confirmatory test, we set forth to define the clinical features of this syndrome.
