同一患者中颅面骨发育不全（克鲁宗病）与干骺端发育异常（派尔病）并存。一项X线影像学研究。
Craniofacial dysostosis (Crouzon's disease) associated with metaphyseal dysplasia (Pyle's disease) in the same subject. A roentgenologic study.
作者信息
Nardi P, Biagi P, Poggini M, Mara M
出版信息
Panminerva Med. 1989 Oct-Dec;31(4):192-7.
PMID:2633110
Abstract
Two distinct constitutional bone diseases, Crouzon's and Pyle's disease, transmitted in autosomal dominant manner trough maternal and paternal lines, were observed joined together in a young patient of 17. The roentgenographic pattern of this never (to our knowledge) before reported associated and the mode of inheritance are presented.
摘要
在一名17岁的年轻患者中，观察到两种不同的遗传性骨病——克鲁宗病和派尔病，它们以常染色体显性方式通过母系和父系遗传，并且同时出现。本文展示了这种此前（据我们所知）从未报道过的联合情况的X线表现及遗传模式。
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