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Keywords = Floating–Harbor syndrome

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10 pages, 5359 KiB  
Case Report
Floating–Harbor Syndrome: A Systematic Literature Review and Case Report
by Wojciech Dobrzynski, Julia Stawinska-Dudek, Natalia Moryto, Dominika Lipka and Marcin Mikulewicz
J. Clin. Med. 2024, 13(12), 3435; https://doi.org/10.3390/jcm13123435 - 12 Jun 2024
Viewed by 2441
Abstract
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 [...] Read more.
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. Full article
(This article belongs to the Special Issue Cleft Lip and Palate: Current Treatment and Future Options)
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