Orlandi Giuliana, Di Girolamo Raffaella, Carbone Luigi, Sarno Laura, Maresca Antonia, Fulgione Caterina, Mazzarelli Laura Letizia, D'antonio Francesco, Mappa Ilenia, Pietrolucci Maria Elena, Rizzo Giuseppe, Maruotti Giuseppe Maria
Gynecology and Obstetrics Unit, Department of Public Health, School of Medicine, University of Naples Federico II, Naples, Italy.
Gynecology and Obstetrics Unit, Department of Neuroscience, Reproductive Sciences and Dentistry, School of Medicine, University of Naples Federico II, Naples, Italy.
J Clin Ultrasound. 2023 Oct;51(8):1348-1355. doi: 10.1002/jcu.23549. Epub 2023 Sep 4.
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.
A case report and a review of the literature was assessed.
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.
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.
肢体缺如-外胚层发育不良-腭裂（EEC）综合征的产前诊断一直基于肢体缺如的检测，并伴有面部腭裂和/或阳性家族史。我们的目的是描述其他超声特征，以提示可能的诊断，无论基因诊断如何，尤其是在家族史阴性的情况下。
评估一份病例报告并进行文献回顾。
我们的病例报告显示单胎胎儿存在手足“龙虾爪”畸形。父亲的家族史显示有双侧两根手指发育不全。通过文献检索，发现了15例EEC综合征产前诊断的病例报告，其中14例符合我们的系统评价标准。33%的病例（5/15）有EEC家族史，因此，我们发现了1例父母近亲结婚的病例。40%的病例（6/15）发现了与EEC相关的异常。其中30%（5/15）发现与泌尿生殖系统异常有关。
在存在肢体缺如、面部腭裂和泌尿系统畸形的情况下，尤其是在家族史阴性的病例中，强烈怀疑最终诊断为EEC。应更加重视遗传咨询，特别是要了解与其他遗传综合征的可能关系。
