焦点皮肤缺血症 (戈尔茨综合征):一个早产的新生儿有多系统异常-一个病例报告
Abdikarin Ahmed Mohamed1, Hindeya Hailu Hagos1, Dawit Seyoum1
1Department of Pediatrics and Child Health, College of Health Science, Mekelle University, Tigray, Ethiopia.
SAGE open medical case reports
|August 19, 2024
概括
戈尔茨综合征是一种罕见的遗传疾病,由PORCN基因突变引起,表现为皮肤和骨异常. 这一案例凸显了新生儿中这种综合症的严重表现,强调了它的罕见性.
科学领域:
- 遗传学和发育生物学
- 皮肤病学 皮肤病学
- 儿科 儿科 儿科
背景情况:
- 戈尔茨综合征是一种罕见的X相关基因皮肤病.
- 它的特征是皮肤缺血,脂肪和全身异常.
- 在PORCN基因的突变是主要原因.
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