家族性婴儿皮质增生症
Familial infantile cortical hyperostosis.
作者信息
Emmery L, Timmermans J, Christens J, Fryns J P
出版信息
Eur J Pediatr. 1983 Oct;141(1):56-8. doi: 10.1007/BF00445672.
PMID:6357801
Abstract
Infantile cortical hyperostosis occurred in three generations of a family affecting eight different members. As confirmed in this family, Caffey disease is an autosomal dominant disorder of unknown etiology, with incomplete penetrance and variable expression.
摘要
婴儿骨皮质增生症出现在一个家族的三代人中，累及八名不同成员。正如该家族所证实的，卡菲病是一种病因不明的常染色体显性疾病，具有不完全外显率和可变表现型。
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