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女性双胞胎中的少汗型(无汗型)外胚层发育不良

Hypohidrotic (anhidrotic) ectodermal dysplasia in female twins.

作者信息

Ogunrinde G O, Zubair R O, Ajike S O, Ige S O

机构信息

Department of Paediatrics, Ahmadu Bello University Teaching Hospital, Zaria, Nigeria.

出版信息

Niger J Clin Pract. 2012 Jan-Mar;15(1):98-100. doi: 10.4103/1119-3077.94109.

Abstract

Autosomal recessive hereditary ectodermal dysplasia (HED) has not been described in sub-Saharan Africa. It is acknowledged to be rarer than the occasionally reported x-linked and autosomal dominant variants. We report a pair of Nigerian female twins with family history and clinical features suggestive of recessive HED, thereby showing the existence of this rare form in sub-Saharan Africa.

摘要

常染色体隐性遗传性外胚层发育不良(HED)在撒哈拉以南非洲地区尚未有过报道。人们认为它比偶尔报道的X连锁和常染色体显性变体更为罕见。我们报告了一对有家族病史且临床特征提示为隐性HED的尼日利亚女性双胞胎,从而表明这种罕见类型在撒哈拉以南非洲地区存在。

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