Majewski F, Küster W
Institute of Human Genetics, University of Düsseldorf, Federal Republic of Germany.
Clin Genet. 1988 Feb;33(2):69-72.
We report a family with oligosymptomatic EEC syndrome. Whereas the mother had most symptoms of this syndrome, one son presented a minimal ectrodactyly and a highly arched palate and one daughter showed only a unilateral stiff thumb. The variability of this syndrome is discussed. The penetrance of this dominantly inherited disorder is judged to be reduced to about 78%.
我们报告了一个患有轻症型EEC综合征的家族。母亲有该综合征的大多数症状，一个儿子表现为轻度缺指畸形和高拱腭，一个女儿仅表现为单侧拇指僵硬。本文讨论了该综合征的变异性。这种常染色体显性遗传病的外显率估计约为78%。
