Floating-Harbor Syndrome: A Systematic Literature Review and Case Report.

Autor: Dobrzynski W; Department of Dentofacial Orthopaedics and Orthodontics, Division of Facial Abnormalities, Medical University of Wroclaw, 50-425 Wroclaw, Poland., Stawinska-Dudek J; Student Scientific Group, Department of Dentofacial Orthopaedics and Orthodontics, Division of Facial Abnormalities, Medical University of Wroclaw, 50-425 Wroclaw, Poland., Moryto N; Student Scientific Group, Department of Dentofacial Orthopaedics and Orthodontics, Division of Facial Abnormalities, Medical University of Wroclaw, 50-425 Wroclaw, Poland., Lipka D; Student Scientific Group, Department of Dentofacial Orthopaedics and Orthodontics, Division of Facial Abnormalities, Medical University of Wroclaw, 50-425 Wroclaw, Poland., Mikulewicz M; Department of Dentofacial Orthopaedics and Orthodontics, Division of Facial Abnormalities, Medical University of Wroclaw, 50-425 Wroclaw, Poland.
Jazyk: angličtina
Zdroj: Journal of clinical medicine [J Clin Med] 2024 Jun 12; Vol. 13 (12). Date of Electronic Publication: 2024 Jun 12.
DOI: 10.3390/jcm13123435
Abstrakt: 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.
Databáze: MEDLINE
Externí odkaz:
Nepřihlášeným uživatelům se plný text nezobrazuje