眼裂、心脏缺陷及其他异常：七例研究，包括两名同胞。
Ocular colobomata, cardiac defect, and other anomalies: a study of seven cases including two sibs.
作者信息
Ho C K, Kaufman R L, Podos S M
出版信息
J Med Genet. 1975 Sep;12(3):289-93. doi: 10.1136/jmg.12.3.289.
Abstract
An association of ocular colobomata and congenital heart disease was observed in seven patients. Two of these were maternal half sisters whose mother also had ocular colobomata. All the patients had normal karyotypes. There was a high incidence of other associated abnormalities involving the central nervous, skeletal, and urogenital systems. Discovery of an ocular coloboma should alert the clinician to search for other abnormalities.
摘要
在7例患者中观察到眼裂和先天性心脏病的关联。其中2例是同父异母的姐妹，她们的母亲也患有眼裂。所有患者的核型均正常。其他相关异常在中枢神经、骨骼和泌尿生殖系统中的发生率很高。眼裂的发现应提醒临床医生寻找其他异常。
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