Lur'e I V, Laziuk G I, Usova Iu I
Genetika. 1976;12(7):125-31.
The analysis of the literature and author's observations of the "EEC" syndrome (ectrodactyly, ectodermal dysplasia and cleft lip/palate) revealed that this is a disorder with an autosomal-dominant type of inheritance with an incomplete penetrance and varying expressivity. Both sexes are affected with the same frequency. The complete form of the syndrome was mentioned in 27 cases only; all other patients had incomplete forms. The combination of two out of 3 main features is enough for the diagnosis of this syndrome. The most common trait of the "EEC" syndrome is ectrodactyly (73/77), clefts of lip or palate were observed in 53 patients out of 77, the ectodermal dysplasia was mentioned in 44 cases. There is an increase of mutation frequency in older parents.
对“EEC”综合征（缺指（趾）畸形、外胚层发育不良和唇/腭裂）的文献分析及作者观察结果显示，这是一种常染色体显性遗传疾病，具有不完全外显率和可变表达性。男女受影响的频率相同。仅27例提及了该综合征的完整形式；所有其他患者为不完全形式。3个主要特征中的2个组合足以诊断该综合征。“EEC”综合征最常见的特征是缺指（趾）畸形（77例中有73例），77例患者中有53例观察到唇或腭裂，44例提及有外胚层发育不良。高龄父母的突变频率增加。
