38岁沙特男性甲髌骨综合征伴不孕症1例报告

Nada Al-Ghamdi
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引用次数: 0

摘要

指甲-髌骨综合征(NPS),也被称为遗传性骨甲发育不良,是一种罕见的常染色体显性疾病,其典型的临床特征是指甲、膝盖、肘部和髂角的变化。偶尔中枢神经系统、眼睛和肾脏系统也会受到影响。全球都报告了NPS,对男性和女性的影响相同。不孕不育在此综合征中未被提及。在这里,我们报告一例38岁的沙特男性NPS,与不育症有关,这是例外的,可能是该综合征的另一种表现。
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Nail-patella syndrome with infertility in a 38 year old Saudi male: A case report

Nail-patella syndrome (NPS) which also known as hereditary osteo-onychodysplasia is a rare autosomal-dominant disorder characterized by a classic clinical tetrad of changes in the nails, knees, elbows and the presence of iliac horns.

Occasionally the central nervous system, the eyes and the renal system are affected.

NPS was reported worldwide, affecting males and females equally.

Infertility was not mentioned in this syndrome before.

Here we are reporting a case of NPS in a 38 year old Saudi male, in association with infertility, which was exceptional and could represent an additional manifestation to the syndrome.

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