异卵双胞胎中的罗思蒙德-汤姆森综合征。
Rothmund-Thomson syndrome in fraternal twins.
作者信息
Tong M
机构信息
Skin Department, General Hospital of Kuala Lumpur, Malaysia.
出版信息
Pediatr Dermatol. 1995 Jun;12(2):134-7. doi: 10.1111/j.1525-1470.1995.tb00139.x.
Abstract
Fraternal twins of Malay descent had the Rothmund-Thomson syndrome. This is a rare, autosomal recessive disorder characterized by photosensitivity, poikiloderma, short stature, skeletal defects, and juvenile cataracts. This is the first case report of the syndrome from southeast Asia.
摘要
一对具有马来血统的异卵双胞胎患有罗思蒙德-汤姆森综合征。这是一种罕见的常染色体隐性疾病，其特征为光敏性、皮肤异色症、身材矮小、骨骼缺陷和青少年白内障。这是东南亚地区该综合征的首例病例报告。
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