PDF(Pubmed)
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 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.
摘要：
浮港综合征（FHS）是一种极为罕见的遗传疾病，与独特的面部外观有关，各种骨骼畸形，骨龄延迟，和表现性语言延迟。它是由Snf2相关的CREBBP激活蛋白（SRCAP）基因中的杂合突变引起的。本文的目的是描述一名14岁男性患有FHS的病例，参考文献综述，收集所有报告的症状。此外,描述了患者的正畸治疗。为此，电子数据库PubMed和Scopus使用关键字“浮动港综合征”进行搜索。与文献中以前的案例类似，患者身材矮小；三角形的脸，有一个大的球茎状的鼻子；深陷的眼睛和狭窄的眼睑间隙；宽口，上唇有细的朱红色边界；和背侧旋转，小耳朵他们还出现了一些描述较少的症状，如巨大牙体和小颌。此外，轻度智力低下,小头畸形,并发现精神运动发育延迟。在一个外传的基础上，口内检查,X光片,和CBCT,他被诊断为咬伤,I类犬和III类犬,在两边。据我们所知,到目前为止，这种疾病的正畸治疗尚未得到详细评估，所以这是第一种情况。
