Annerén G, Andersson T, Lindgren P G, Kjartansson S
Department of Clinical Genetics, University Hospital, Uppsala, Sweden.
Clin Genet. 1991 Oct;40(4):257-62. doi: 10.1111/j.1399-0004.1991.tb03093.x.
Six patients with the ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome, namely five members of the same family and one sporadic case, are presented. One of the main features of the EEC syndrome, ectrodactyly, was missing in five of the patients. The diagnosis did not become clear until the youngest son of the family was born. All of our six patients had a low birth weight and some were born preterm, and four had poly- and/or syndactyly without ectrodactyly. A low birth weight and polysyndactyly have been reported previously in patients with the EEC syndrome and might be features of the syndrome. The present patients illustrate the great phenotypic variability in the EEC syndrome and the need for a careful search for microsymptoms in potential gene-carriers. In two members of the affected family, EEC syndrome was diagnosed prenatally after 16 weeks of gestation by detection of the cleft lip and palate on ultrasound examination. The mother chose to continue the pregnancies. However, prenatal diagnosis of cleft lip and palate might be of value in genetic counselling for other inherited syndromes leading to severe disability.
本文报告了6例患有缺指（趾）-外胚层发育不良-腭裂（EEC）综合征的患者，其中包括同一家族的5名成员和1例散发病例。EEC综合征的主要特征之一——缺指（趾），在5名患者中未出现。直到该家族中最小的儿子出生，诊断才明确。我们的6例患者均出生体重低，部分为早产，4例有并指（趾）和/或多指（趾）但无缺指（趾）。先前已有报道称EEC综合征患者出生体重低和多指（趾）畸形，这可能是该综合征的特征。目前这些患者表明EEC综合征存在巨大的表型变异性，并且在潜在基因携带者中需要仔细寻找微小症状。在受影响家族的两名成员中，妊娠16周后通过超声检查发现唇腭裂，从而在产前诊断出EEC综合征。母亲选择继续妊娠。然而，唇腭裂的产前诊断对于其他导致严重残疾的遗传性综合征的遗传咨询可能具有价值。
