Floating Harbor and the good ship Shprintzen.

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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...

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The 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...

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Growth 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...

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ژورنال

عنوان ژورنال: Journal of Medical Genetics

سال: 1991

ISSN: 1468-6244

DOI: 10.1136/jmg.28.11.807-a