Apert Syndrome in Lagos – a Case Report and Literature Review

Balogun Modupe, Balogun Bolanle, A. Bola, Popoola Ruqayat
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引用次数: 0

Abstract

Apert Syndrome is a rare autosomal dominant disorder characterized by premature fusion of sutures of bones of the skull (Craniosynostosis), fingers and toes (Syndactyly) to different degree. Though it is rare, it is pertinent for clinicians to know about this condition so as to improve their ability to manage it and to note that management is multidisciplinary. We present a case of Apert Syndrome in a one month old Nigerian female, and one of a set of twins that presented with proptosis, hypertelorism, high arched palate and fusion of bones of fingers and toes. Keyword: Apert syndrome, craniosynostosis, proptosis, hypertelorism Nigerian Medical Practitioner Vol. 63 No 1-2, 2013
拉各斯的Apert综合征-一个病例报告和文献综述
Apert综合征是一种罕见的常染色体显性遗传病,其特征是颅骨缝合线(颅缝闭合)、手指和脚趾(并指)不同程度的过早融合。虽然这种情况很少见,但临床医生了解这种情况是有意义的,以便提高他们的管理能力,并注意到管理是多学科的。我们提出一个病例Apert综合征在一个月大的尼日利亚女性,和一组双胞胎之一,提出了突出,远远,高弓腭和融合的手指和脚趾骨。关键词:Apert综合征,颅缝闭锁,突出,远距,尼日利亚医生卷63第1-2期,2013
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