异常(物理)
医学
遗传学
生物
物理
凝聚态物理
作者
Ailish Hayes,Teresa Costa,Robert C. Polomeno,John M. Opitz,James F. Reynolds
出处
期刊:American journal of medical genetics
[Wiley]
日期:1985-10-01
卷期号:22 (2): 273-280
被引量:62
标识
DOI:10.1002/ajmg.1320220208
摘要
Abstract We report on a child with Duane anomaly, deafness, cervical spine, and radial ray abnormalities. A sister of the proposita had hemifacial microsomia, cervical abnormalities, and hypoplasia of the thenar eminence. Four relatives had hypoplasia of the thenar eminence. A fifth had preaxial polydactyly. Duane anomaly was present in two sixth‐degree relatives. This appears to be an autosomal dominant trait. Singly or in combination the abnormalities seen in this family have all been described in association with Duane anomaly. Their occurrence in the same family suggests that they are not independent entities but represent pleiotropic effects of the same gene.
科研通智能强力驱动
Strongly Powered by AbleSci AI