洞察光谱的Apert综合征-个案研究

R. Narang, S. Sandhu, Sarfaraz Padda, J. Sandhu, A. Manchanda
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引用次数: 1

摘要

Apert综合征(肩头并指畸形)是一种罕见的先天性常染色体显性遗传病,其特征是原发性颅缝闭合,面部中部畸形和手脚对称并指。未经治疗的颅缝闭锁导致脑生长抑制和颅内压和眶内压增加。尽管在预防和治疗发育异常方面取得了巨大进展,但它们仍然是世界范围内发病率的一个重要原因。因此,临床医生有责任尽可能多地了解这种情况,以提高他们处理和预防这种情况的能力。我们报告一个10岁男孩患阿伯特综合症的病例。由于Apert综合征患者的多种改变,包括牙医、神经外科医生、整形外科医生、眼科医生和遗传学家在内的多学科方法对于成功的计划和治疗至关重要。Apert和Crouzon综合症之间的区别也被强调。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
An Insight Into The Spectrum Of Apert Syndrome – A Case Study
Apert’s syndrome (Acrocephalo-syndactyly) is a rare congenital, autosomal dominant condition characterized by primary craniosynostosis, mid face malformations and symmetrical syndactyly of the hand and feet. Untreated craniosynostosis leads to inhibition of brain growth and an increase in intracranial and intraorbital pressure. Despite of tremendous advances which have been made in the prevention and treatment of developmental anomalies, they still remain a significant cause of morbidity worldwide. As such, it is incumbent on clinicians to learn as much as possible about this condition so as to improve their ability to handle and prevent them. We present a case of Apert’s syndrome seen in a 10 year old boy. Because of the multiple alterations in patients with Apert syndrome, a multidisciplinary approach, including dentists and neurosurgeons, plastic surgeons, ophthalmologists and geneticists, is essential for a successful planning and treatment. The differences between Apert and Crouzon’s syndrome are also highlighted.
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