Otologic manifestations of Floating Harbor Syndrome (FHS): A case series and a review of the literature

Allen, David Z.; Roy, Soham

doi:10.1016/j.xocr.2022.100406

Cited by 1 publication

(3 citation statements)

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“…Characteristic symptoms include expressive language delay and deficits [ 12 ] as well as speech impairment [ 4 ], which may be related to immobility of the palate [ 3 ]. A high-pitched and hypernasal voice [ 6 ] in addition to conductive hearing loss [ 16 ] are usually noted in individuals with FHS. Intellectual disability is mild to moderate [ 9 ].…”

Section: Discussionmentioning

confidence: 99%

“…Their intellectual development is also affected, with most individuals showing mild to moderate intellectual disability [ 1 , 4 , 5 , 6 , 14 ]. The exact cause of FHS is a mutation in the SRCAP gene [ 2 , 4 , 5 , 6 , 9 , 10 , 12 , 16 , 17 ], a gene that encodes the SNF2-related CREBBP activator protein [ 2 , 4 , 9 , 12 ].…”

Section: Introductionmentioning

confidence: 99%

“…Their intellectual development is also affected, with most individuals showing mild to moderate intellectual disability [1,[4][5][6]14]. The exact cause of FHS is a mutation in the SRCAP gene [2,[4][5][6]9,10,12,16,17], a gene that encodes the SNF2-related CREBBP activator protein [2,4,9,12]. This mutation, which is normally not inherited, develops spontaneously either early in embryonic development or during the creation of reproductive cells.…”

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Floating–Harbor Syndrome: A Systematic Literature Review and Case Report

Dobrzynski,

Stawinska-Dudek,

Moryto

et al. 2024

JCM

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Floating–Harbor syndrome (FHS) is an extremely rare genetic disorder connected with a distinctive facial appearance, various skeletal malformations, delayed bone age, and expressive language delays. It is caused by heterozygous mutations in the Snf2-related CREBBP activator protein (SRCAP) gene. The aim of this paper is to describe the case of a 14-year-old male with FHS, referring to a review of the literature, and to collect all reported symptoms. In addition, the orthodontic treatment of the patient is described. For this, the electronic databases PubMed and Scopus were searched using the keyword “Floating–Harbor syndrome”. Similar to previous cases in the literature, the patient presented with short stature; a triangular face with a large bulbous nose; deep-set eyes and narrow eyelid gaps; a wide mouth with a thin vermilion border of the upper lip; and dorsally rotated, small ears. They also presented some less-described symptoms, such as macrodontia and micrognathia. Moreover, mild mental retardation, microcephaly, and delayed psychomotor development were found. On the basis of an extraoral, intraoral examination, X-rays, and CBCT, he was diagnosed with overbite, canine class I and angle class III, on both sides. To the best of our knowledge, orthodontic treatment of this disease has not been assessed in detail so far, so this is the first case.

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