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戈尔登哈综合征与半侧颜面短小畸形:三例患者观察报告

Goldenhar syndrome and hemifacial microsomia: observations on three patients.

作者信息

Thomas P

出版信息

Eur J Pediatr. 1980 May;133(3):287-92. doi: 10.1007/BF00496092.

Abstract

Three patients with oculoauriculovertebral dysplasia (Goldenhar) or hemifacial microsomia are presented. One had ocular, oral and auricular anomalies; another had vertebral malformations in addition to ocular and oro-auricular anomalies, and in a third only oro-auricular malformations were evident. The oculoauriculovertebral malformation complex is regarded as a variety of bilateral hemifacial microsomia, with the vertebral defects, the rate occipital encephalocele and cleft of lip and palate presumably representing midline interaction between the 2 fields. Hemifacial microsomia is a causally non-specific developmental field complex (DFC) which usually occur sporadically, but can also be seen as an autosomal dominant trait and as a component manifestation in the 18 trisomy syndrome. Pathogenetic and therapeutic considerations are also discussed.

摘要

本文报告了3例眼耳脊椎发育不良(Goldenhar综合征)或半侧颜面短小畸形患者。1例有眼、口和耳的异常;另1例除眼和口耳异常外,还有脊柱畸形;第3例仅可见口耳畸形。眼耳脊椎畸形综合征被认为是双侧半侧颜面短小畸形的一种类型,其脊柱缺损、枕部脑膨出和唇腭裂可能代表两个区域之间的中线相互作用。半侧颜面短小畸形是一种病因不明确的发育区域复合体(DFC),通常为散发性,但也可表现为常染色体显性性状,以及18-三体综合征的一种组成表现。本文还讨论了其发病机制和治疗相关问题。

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