与尾部发育异常序列相关的阿拉吉尔综合征。
Alagille syndrome associated with caudal dysplasia sequence.
作者信息
Rodríguez J I, Rivera T, Palacios J
机构信息
Department of Pathology, La Paz Hospital, Madrid, Spain.
出版信息
Am J Med Genet. 1991 Jul 1;40(1):61-4. doi: 10.1002/ajmg.1320400112.
PMID:1887851
Abstract
A 36 day-old male with typical features of Alagille syndrome presented at birth additional features consistent with the diagnosis of caudal dysplasia sequence: imperforate anus, rectourethral fistula, lumbosacral abnormalities, and dysplastic right kidney. The association of these 2 conditions has not been previously reported, and could indicate the existence of an axial mesodermal dysplasia, of variable extension, in the Alagille syndrome.
摘要
一名36日龄男性，具有典型的阿拉吉耶综合征特征，出生时还伴有与尾椎发育不全序列诊断相符的其他特征：肛门闭锁、直肠尿道瘘、腰骶部异常和发育不良的右肾。这两种病症的关联此前未见报道，可能提示阿拉吉耶综合征中存在一种轴向中胚层发育异常，其范围可变。
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