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综合征型和非综合征型原发性三角头畸形:237例患者系列分析

Syndromal and nonsyndromal primary trigonocephaly: analysis of a series of 237 patients.

作者信息

Lajeunie E, Le Merrer M, Marchac D, Renier D

机构信息

U393 INSERM, Paris, France.

出版信息

Am J Med Genet. 1998 Jan 13;75(2):211-5. doi: 10.1002/(sici)1096-8628(19980113)75:2<211::aid-ajmg19>3.0.co;2-s.

Abstract

From a series of 1,713 patients with craniosynostosis hospitalized between 1976 and 1996, 237 propositi with metopic synostosis were analyzed. The prevalence of metopic synostosis was estimated in the order of 1 in 15,000 children. Family information was obtained from 184 propositi from 179 families. The male-to-female ratio was 3.3:1. There was no maternal or paternal age effect. A family history was obtained in 10 of the 179 families, giving a 5.6% figure of familial cases. The frequency of twinning was 7.8% with two concordances for metopic synostosis in two monozygotic twin pairs. The male-to-female ratio, the twinning frequency, and the proportion of familial cases in trigonocephaly are very similar to those observed in scaphocephaly, which also involves the longitudinal sutural system. Fetal exposure to valproic acid was noticed in eight cases. The series was divided into two groups: nonsyndromal trigonocephaly (n = 184) and trigonocephaly associated with other malformations (n = 53). The second group included 13 cases of well-delineated syndromes and 40 cases of trigonocephaly associated with one or more malformations, but without any known syndrome, that could be undelineated syndromes. These groups differed significantly in their mental prognosis.

摘要

在1976年至1996年间住院的1713例颅缝早闭患者中,对237例患有额缝早闭的先证者进行了分析。额缝早闭的患病率估计约为每15000名儿童中有1例。从179个家庭的184例先证者那里获取了家族信息。男女比例为3.3:1。不存在母亲或父亲年龄效应。在179个家庭中有10个有家族病史,家族性病例占5.6%。双胎发生率为7.8%,在两对单卵双胎中出现了两例额缝早闭一致的情况。三角头畸形的男女比例、双胎发生率和家族性病例比例与舟状头畸形中观察到的情况非常相似,舟状头畸形也涉及纵向缝合系统。有8例注意到胎儿暴露于丙戊酸。该系列分为两组:非综合征性三角头畸形(n = 184)和与其他畸形相关的三角头畸形(n = 53)。第二组包括13例明确的综合征病例和40例与一种或多种畸形相关但无任何已知综合征的三角头畸形病例,后者可能是未明确的综合征。这些组在智力预后方面有显著差异。

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