PRENATAL DIAGNOSIS OF REPETITIVE ELLIS-VAN CREVELD SYNDROME ACCOMPANIED BY DANDY WALKER MALFROMATION - CASE REPORT
Journal
International Journal of Medical Reviews and Case Reports
Date Issued
2021-01
Author(s)
Todorovska, Irena
Paneva, Iva
Nikoloska, Katerina
Belchovska, Eva
Dimitrovski, Sasho
DOI
10.5455/ijmrcr.ellis-van-creveld-syndrome
Abstract
Ellis-van Creveld syndrome is known as chondroectodermal dysplasia or mesoectodermal
dysplasia. It is a rear genetic disorder with autosomal recessive inheritance resulting from these patients’ malformations. Case Report: A repetitive syndrome is reported in the present article. Pregnant woman with a fetus with Ellis-van Creveld syndrome is described with a 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 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 fetus. The patient prenatally was diagnosed with 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.
dysplasia. It is a rear genetic disorder with autosomal recessive inheritance resulting from these patients’ malformations. Case Report: A repetitive syndrome is reported in the present article. Pregnant woman with a fetus with Ellis-van Creveld syndrome is described with a 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 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 fetus. The patient prenatally was diagnosed with 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.
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