Prenatal diagnosis of ectrodactyly-ectodermal dysplasia clefting syndrome ‒ a case report with literature review

The ectrodactyly-ectodermal dysplasia clefting (EEC) syndrome is a rare genetic anomaly described as ectrodactyly (hands and feet), ectodermal dysplasia, and facial cleft with an incidence of around 1 in 90,000 in the population. This syndrome belongs to the TP63 gene's mutation family. Ectrodactyly is described as the absence of the central toes or fingers or parts of these appendages. Ectodermal dysplasia usually includes changes in the skin, teeth, hair, nails, endocrine glands, nasolacrimal ducts, genitourinary system, conductive hearing loss.

This is a unique case of a 40-year-old second gravida, suspected of having a sporadic form of EEC syndrome. Routine transabdominal ultrasound at 14 weeks of gestation revealed malformation of the limbs. The two-dimensional and three-dimensional ultrasound at 16 weeks showed a fetus with ectrodactyly of right hand and foot and cleft palate presence. Diagnostic amniocentesis was performed at 17 weeks of gestation. A molecular genetics test using the Sanger sequencing method from amniotic fluid was performed by scanning TP63 gene sequences and revealed a heterozygous pathogenic variant in TP63. The patient decided on feticide.

The heredity of the syndrome is autosomal dominant with high variable expression. More than 300 clinical cases of this syndrome are described in the literature, including both sexes, but the actual etiology is unknown.