眼耳脊椎异常：变异性与因果异质性。

Oculoauriculovertebral anomaly: variability and causal heterogeneity.

作者信息

Rollnick B R

机构信息

Center for Craniofacial Anomalies, University of Illinois College of Medicine, Chicago 60680.

出版信息

Am J Med Genet Suppl. 1988;4:41-53. doi: 10.1002/ajmg.1320310510.

DOI:10.1002/ajmg.1320310510

PMID:3144985

Abstract

The oculoauriculovertebral anomaly is a complex developmental field defect. There is lack of agreement on the minimal diagnostic criteria and the phenotypic spectrum. Causal heterogeneity has been described. This report reviews aspects of phenotypic variability and causal heterogeneity and discusses current understanding of the defect.

摘要

眼耳脊椎异常是一种复杂的发育性区域缺陷。关于其最小诊断标准和表型谱尚无共识。已描述了病因异质性。本报告回顾了表型变异性和病因异质性的相关方面，并讨论了目前对该缺陷的认识。