Abstract

Introduction: Ellis-van Creveld syndrome is known as chondroectodermal dysplasia or mesoectodermal dysplasia. It is a rare genetic disorder with autosomal recessive inheritance resulting from malformations in these patients.

Case Report: A repetitive syndrome is reported in the present article. A pregnant woman with a fetus with Ellis-van Creveld syndrome is described with rare concomitant abnormal findings of Dandy-Walker malformation. The aim is to emphasize the importance of the ultrasound differentiation of prenatal diagnosis in patients who have fetuses with congenital anomalies.
A 26-year-old pregnant woman was diagnosed to be pregnant with a fetus with congenital anomaly- Ellis-van Creveld Syndrome associated with Dandy-Walker malformation. In her history of diseases, previously she has had three indicated abortions due to central nervous system and limbs deformities. She has only one healthy child. The patient was examined clinically, paraclinical, digitally, and has had genetic examinations performed on her, her partner and her fetus.
The patient prenatally was diagnosed of caring a fetus with shortening of the long bones, thoracic dysplasia, hexadactyly of the hand, arterial septal defect in addition to Ellis-van Creveld accompanied by Dandy-Walker syndrome. From the results obtained it has been deducted that the pregnancy needs to be terminated.

Conclusion: A multidisciplinary approach is needed in prenatal diagnosis and family genetic counselling for the wellbeing of a fetus and the entire family.

Key words: Ellis-van Creveld syndrome, prenatal diagnosis, genetic counseling