منابع مشابه
Floating-Harbor syndrome.
Many syndromes are named in an eponymous fashion after the original authors, or occasionally after the original patients, but the name of this syndrome is derived from the hospitals where the first two patients were described. In 1973 Pelletier and Feingold' described a boy seen at the Boston Floating Hospital with short stature, delayed speech development, and a striking facial appearance. A f...
متن کاملThe defining DNA methylation signature of Floating-Harbor Syndrome
Floating-Harbor syndrome (FHS) is an autosomal dominant genetic condition characterized by short stature, delayed osseous maturation, expressive language impairment, and unique facial dysmorphology. We previously identified mutations in the chromatin remodeling protein SRCAP (SNF2-related CBP Activator Protein) as the cause of FHS. SRCAP has multiple roles in chromatin and transcriptional regul...
متن کاملGrowth hormone deficiency: an unusual presentation of floating harbor syndrome.
Floating-Harbor Syndrome (FHS) is a very rare condition of unknown etiology characterized by short stature, delayed bone age, characteristic facial features, delayed language skills and usually normal motor development. This syndrome has only once been associated with growth hormone deficiency and precocious puberty in the same patient. We describe a 5 4/12 year-old girl with the typical featur...
متن کاملMutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome.
Floating-Harbor syndrome (FHS) is a rare condition characterized by short stature, delayed osseous maturation, expressive-language deficits, and a distinctive facial appearance. Occurrence is generally sporadic, although parent-to-child transmission has been reported on occasion. Employing whole-exome sequencing, we identified heterozygous truncating mutations in SRCAP in five unrelated individ...
متن کاملThe phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP
BACKGROUND 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. METHODS AND RESULTS Cl...
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ژورنال
عنوان ژورنال: Pediatric Neurology Briefs
سال: 1988
ISSN: 2166-6482,1043-3155
DOI: 10.15844/pedneurbriefs-2-10-11