The case of prenatal diagnosis of the EEC syndrome (ectrodactyly – ectodermal dysplasia – clefting syndrome)

Abstract

The case of prenatal ultrasound diagnosis of EEC syndrome (ectrodactyly — ectodermal dysplasia — clefting syndrome) in the third trimester of gestation is presented. According to the ultrasound research, the fetus presents with: left-sided cleft lip and palate, on the right hand there is syndactyly of the third and the fourth fingers, on the left hand there is absence of the third finger, which looks like a wide interdigital space. Examination of the feet revealed bilateral symmetric syndactyly of one to second and third to fourth toes. The difficulty of prenatal syndromal diagnosis of EEC is connected with wide variability in the clinical picture and low incidence in the population. The diagnosis was confirmed in the postnatal period.