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[家族性儿童期皮质增生症]

[Familial childhood cortical hyperostosis].

作者信息

Lacasa A, Vera F, Marzo L, Díaz N, Marco E, Ajada N T, Oliván M J, Gonzalvo N, Buñuel C

出版信息

An Esp Pediatr. 1987 Jan;26(1):44-6.

PMID:3548517
Abstract

We present three cases of Caffey's disease, which have been observed in a family and a previous one former generation of the same family. A review of the literature upon family cases is carried out (35 families with 143 patients) prevailing the hypothesis of the type of autosomal dominant trait with incomplete penetrance and variable expressivity. HLA system is studied in such a family without common haplotypes being found and therefore the trait does not seem to be linked to genes of this system.

摘要

我们报告了3例婴儿骨皮质增生症病例,这些病例出现在一个家族中,且在同一家族的上一代也有过1例。我们对家族性病例的文献进行了综述(35个家族,共143例患者),普遍支持常染色体显性性状且外显不全和表现度可变这一假说。我们在这样一个家族中研究了HLA系统,未发现共同单倍型,因此该性状似乎与该系统的基因没有关联。

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