Ectrodactyly‐ectodermal dysplasia‐clefting syndrome. Prenatal prospective ultrasound diagnosis

Abstract

ObjectivePrenatal 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.Materials and MethodsA case report and a review of the literature was assessed.ResultsOur 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.ConclusionsA 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.