Abstract：
OBJECTIVE: Prenatal diagnosis of the Ectrodactyly-Ectodermal dysplasia-clefting (EEC) syndrome has been based upon the detection of ectrodactyly, in association with facial clefting and/or positive family history. Our aim is to describe other ultrasonographic features indicating the presuntive diagnosis, regardless of genetic diagnosis, especially in cases of negative family history.
METHODS: A case report and a review of the literature was assessed.
RESULTS: Our case report showed a singleton foetus \"lobster claw\" deformities of hands and feet. Paternal history revealed bilateral agenesia of two fingers. Through literature, 15 case reports of prenatal diagnosis of EEC syndrome were found, 14 of which were eligible for our systematic review. The 33% of cases (5/15) had a familiar history of EEC, thus, we found one case of consanguinity of parents. Anomalies EEC-related were recognized in the 40% of cases (6/15). An association with genitourinary anomalies was found in 30% (5/15) of them.
CONCLUSIONS: A strong suspicion of final diagnosis of EEC may be done in the presence of ectrodactyly, facial clefting and urinary malformation especially in cases of negative family history. More attention should be given to a genetic counseling, especially to understand a possible relation to other genetic syndromes.
METHODS: A case report and a review of the literature was assessed.
RESULTS: Our case report showed a singleton foetus \"lobster claw\" deformities of hands and feet. Paternal history revealed bilateral agenesia of two fingers. Through literature, 15 case reports of prenatal diagnosis of EEC syndrome were found, 14 of which were eligible for our systematic review. The 33% of cases (5/15) had a familiar history of EEC, thus, we found one case of consanguinity of parents. Anomalies EEC-related were recognized in the 40% of cases (6/15). An association with genitourinary anomalies was found in 30% (5/15) of them.
CONCLUSIONS: A strong suspicion of final diagnosis of EEC may be done in the presence of ectrodactyly, facial clefting and urinary malformation especially in cases of negative family history. More attention should be given to a genetic counseling, especially to understand a possible relation to other genetic syndromes.
摘要：
目的：产前诊断Ectrodactyly-外胚层发育不良裂开（EEC）综合征的基础上，与面部裂痕和/或阳性家族史有关。我们的目的是描述其他超声特征，表明诊断前，不管基因诊断，特别是在家族史阴性的情况下。
方法：评估了一例病例报告和文献综述。
结果：我们的病例报告显示单胎胎儿“龙虾爪”的手和脚畸形。父亲病史显示两个手指的双侧异性恋。通过文学,发现15例产前诊断为EEC综合征，其中14人有资格参加我们的系统审查。33％的病例（5/15）有熟悉的EEC病史，因此，我们发现了一例父母血缘关系的病例.在40%的病例(6/15)中发现了与EEC相关的异常。其中30％（5/15）与泌尿生殖系统异常有关。
结论：强烈怀疑EEC的最终诊断可能是在存在异位的情况下进行的，面部裂痕和尿路畸形，尤其是在家族史阴性的情况下。应该更加重视遗传咨询，特别是了解与其他遗传综合征的可能关系。
方法：评估了一例病例报告和文献综述。
结果：我们的病例报告显示单胎胎儿“龙虾爪”的手和脚畸形。父亲病史显示两个手指的双侧异性恋。通过文学,发现15例产前诊断为EEC综合征，其中14人有资格参加我们的系统审查。33％的病例（5/15）有熟悉的EEC病史，因此，我们发现了一例父母血缘关系的病例.在40%的病例(6/15)中发现了与EEC相关的异常。其中30％（5/15）与泌尿生殖系统异常有关。
结论：强烈怀疑EEC的最终诊断可能是在存在异位的情况下进行的，面部裂痕和尿路畸形，尤其是在家族史阴性的情况下。应该更加重视遗传咨询，特别是了解与其他遗传综合征的可能关系。
