Ioan D M, Dagomiz D, Fryns J P
Department of Medical Genetics, Institute of Endocrinology, Bucharest, Roumania.
Genet Couns. 2002;13(2):187-9.
In this short report we present further evidence for the autosomal dominant pattern of inheritance with variable expressivity in the Oculo-Dento-Digital Dysplasia (OMIM * 164200). The full clinical manifestation of the syndrome was observed in a 9.5-year-old girl with contrasting mild manifestation (complete cutaneous syndactyly of fingers IV-V--type III syndactyly) in her father.
在本简短报告中，我们提供了进一步证据，证明眼-牙-指发育不全（OMIM *164200）的常染色体显性遗传模式具有可变表达性。该综合征的全部临床表现见于一名9.5岁女孩，而其父亲仅有轻微表现（IV-V指完全皮肤并指——III型并指）。
