先天性皮肤松弛症和骨质疏松症。
Congenital cutis laxa and osteoporosis.
作者信息
Sakati N O, Nyhan W L
出版信息
Am J Dis Child. 1983 May;137(5):452-4. doi: 10.1001/archpedi.1983.02140310034008.
Abstract
A 16-month-old male infant was studied who had a syndrome of cutis laxa and incapacitating osteoporosis. The bones displayed evidence of multiple fractures, with impaction and deformities even in the absence of weight bearing. In addition, the infant had large ears and antimongoloid obliquity of the palpebral fissures.
摘要
对一名16个月大的男婴进行了研究，他患有皮肤松弛症和严重的骨质疏松症。骨骼显示出多处骨折的迹象，即使在没有负重的情况下也有嵌入和畸形。此外，该婴儿耳朵大，睑裂呈反蒙古样倾斜。
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