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识别阿尔斯科格综合征。

Identifying Aarskog Syndrome.

作者信息

Ahmed Anis, Mufeed Abdullah, Ramachamparambathu Ashir Kolikkal, Hasoon Umer

机构信息

Reader, Department of Oral Medicine and Radiology, Indira Gandhi Institute of Dental Sciences , Cochin, Kerala, India .

Reader, Department of Oral Medicine and Radiology, MES Dental College , Perinthalmanna, Kerala, India .

出版信息

J Clin Diagn Res. 2016 Dec;10(12):ZD09-ZD11. doi: 10.7860/JCDR/2016/22180.8982. Epub 2016 Dec 1.

Abstract

Aarskog syndrome also known as Aarskog-Scott Syndrome, Facio-digito-genital Syndrome or Faciogenital Dysplasia is a rare, X-linked disorder predominantly affecting males, characterized by facial, skeletal and genital anomalies. This is a case report of a 15-year-old male patient who visited our college complaining of poor facial aesthetics. History revealed consanguinity and his sibling to be suffering from the same. A diagnosis of Aarskog syndrome was made based upon the detailed patient history, thorough clinical evaluation and identification of characteristic findings in radiographs. Professional counselling explained him the nature of his condition and treatment options to correct dental anomalies and congenital malformations were advised.

摘要

阿斯克格综合征也称为阿斯克格 - 斯科特综合征、面 - 指 - 生殖器综合征或面生殖器发育异常,是一种罕见的X连锁疾病,主要影响男性,其特征为面部、骨骼和生殖器异常。本文报告了一名15岁男性患者,他因面部美观不佳前来我院就诊。病史显示有近亲结婚情况,且其兄弟姐妹也患有同样疾病。根据详细的患者病史、全面的临床评估以及X光片中特征性表现的识别,诊断为阿斯克格综合征。专业咨询向他解释了病情的性质,并建议了矫正牙齿异常和先天性畸形的治疗方案。

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Identifying Aarskog Syndrome.识别阿尔斯科格综合征。
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