Roelfsema N M, Cobben J M
Department of Medical Genetics, Antonius Deusinglaan 4, Groningen, The Netherlands.
Clin Dysmorphol. 1996 Apr;5(2):115-27. doi: 10.1097/00019605-199604000-00003.
Analysis of 230 published cases of the EEC syndrome revealed that, besides the cardinal symptoms (ectrodactyly, ectodermal dysplasia and clefting), lacrimal tract abnormalities and urogenital abnormalities are part of this syndrome. Mental retardation and various abnormalities and dysmorphisms of the ears and face, reported in EEC syndrome, do not really seem to be part of it. Conductive hearing loss is associated with clefting. A score for the severity of symptoms in the EEC syndrome is described, and using this score it appears that isolated cases are generally more severely affected than familial cases. We did not find signs of genomic imprinting or anticipation in published EEC families. We did find, however, that interfamilial variability is significantly larger than intrafamilial variability, pointing to genetic (allelic?) heterogeneity. The penetrance of the EEC-mutation is estimated to be between 93% and 98%.
对230例已发表的EEC综合征病例的分析显示，除了主要症状（缺指（趾）畸形、外胚层发育不良和腭裂）外，泪道异常和泌尿生殖系统异常也是该综合征的一部分。EEC综合征中报道的智力迟钝以及耳和面部的各种异常及畸形似乎并非该综合征的真正组成部分。传导性听力损失与腭裂有关。描述了EEC综合征症状严重程度的评分，使用该评分发现散发病例通常比家族性病例受影响更严重。在已发表的EEC家族中，我们未发现基因组印记或遗传早现的迹象。然而，我们确实发现家族间变异性明显大于家族内变异性，这表明存在遗传（等位基因？）异质性。EEC突变的外显率估计在93%至98%之间。
