Prenatal diagnosis of repetitive Ellis-van Creveld syndrome accompanied by Dandy Walker malformation - Case report

Maja Pejkovska Ilieva; Igor Samardjiski; Vesna Livrinova; Irena Todorovska; Slagjana Simeonova Krstevska; Iva Paneva; Katerina Nikoloska; Eva Sozovska Belchovska; Sasho Dimitrovski

doi:10.5455/IJMRCR.ellis-van-creveld-syndrome

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Case Report

Online Publishing Date:
15 / 02 / 2021

Int J Med Rev Case Rep. 2021; 5(6): 9-14

doi: 10.5455/IJMRCR.ellis-van-creveld-syndrome

Prenatal diagnosis of repetitive Ellis-van Creveld syndrome accompanied by Dandy Walker malformation - Case report

Maja Pejkovska Ilieva, Igor Samardjiski, Vesna Livrinova, Irena Todorovska, Slagjana Simeonova Krstevska, Iva Paneva, Katerina Nikoloska, Eva Sozovska Belchovska, Sasho Dimitrovski.

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

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How to Cite this Article

Pubmed Style

Ilieva MP, Samardjiski I, Livrinova V, Todorovska I, Krstevska SS, Paneva I, Nikoloska K, Belchovska ES, Dimitrovski S. Prenatal diagnosis of repetitive Ellis-van Creveld syndrome accompanied by Dandy Walker malformation - Case report. Int J Med Rev Case Rep. 2021; 5(6): 9-14. doi:10.5455/IJMRCR.ellis-van-creveld-syndrome

Web Style

Ilieva MP, Samardjiski I, Livrinova V, Todorovska I, Krstevska SS, Paneva I, Nikoloska K, Belchovska ES, Dimitrovski S. Prenatal diagnosis of repetitive Ellis-van Creveld syndrome accompanied by Dandy Walker malformation - Case report. https://www.mdpub.net/?mno=45549 [Access: April 04, 2024]. doi:10.5455/IJMRCR.ellis-van-creveld-syndrome

AMA (American Medical Association) Style

Ilieva MP, Samardjiski I, Livrinova V, Todorovska I, Krstevska SS, Paneva I, Nikoloska K, Belchovska ES, Dimitrovski S. Prenatal diagnosis of repetitive Ellis-van Creveld syndrome accompanied by Dandy Walker malformation - Case report. Int J Med Rev Case Rep. 2021; 5(6): 9-14. doi:10.5455/IJMRCR.ellis-van-creveld-syndrome

Vancouver/ICMJE Style

Ilieva MP, Samardjiski I, Livrinova V, Todorovska I, Krstevska SS, Paneva I, Nikoloska K, Belchovska ES, Dimitrovski S. Prenatal diagnosis of repetitive Ellis-van Creveld syndrome accompanied by Dandy Walker malformation - Case report. Int J Med Rev Case Rep. (2021), [cited April 04, 2024]; 5(6): 9-14. doi:10.5455/IJMRCR.ellis-van-creveld-syndrome

Harvard Style

Ilieva, M. P., Samardjiski, . I., Livrinova, . V., Todorovska, . I., Krstevska, . S. S., Paneva, . I., Nikoloska, . K., Belchovska, . E. S. & Dimitrovski, . S. (2021) Prenatal diagnosis of repetitive Ellis-van Creveld syndrome accompanied by Dandy Walker malformation - Case report. Int J Med Rev Case Rep, 5 (6), 9-14. doi:10.5455/IJMRCR.ellis-van-creveld-syndrome

Turabian Style

Ilieva, Maja Pejkovska, Igor Samardjiski, Vesna Livrinova, Irena Todorovska, Slagjana Simeonova Krstevska, Iva Paneva, Katerina Nikoloska, Eva Sozovska Belchovska, and Sasho Dimitrovski. 2021. Prenatal diagnosis of repetitive Ellis-van Creveld syndrome accompanied by Dandy Walker malformation - Case report. International Journal of Medical Reviews and Case Reports, 5 (6), 9-14. doi:10.5455/IJMRCR.ellis-van-creveld-syndrome

Chicago Style

Ilieva, Maja Pejkovska, Igor Samardjiski, Vesna Livrinova, Irena Todorovska, Slagjana Simeonova Krstevska, Iva Paneva, Katerina Nikoloska, Eva Sozovska Belchovska, and Sasho Dimitrovski. "Prenatal diagnosis of repetitive Ellis-van Creveld syndrome accompanied by Dandy Walker malformation - Case report." International Journal of Medical Reviews and Case Reports 5 (2021), 9-14. doi:10.5455/IJMRCR.ellis-van-creveld-syndrome

MLA (The Modern Language Association) Style

Ilieva, Maja Pejkovska, Igor Samardjiski, Vesna Livrinova, Irena Todorovska, Slagjana Simeonova Krstevska, Iva Paneva, Katerina Nikoloska, Eva Sozovska Belchovska, and Sasho Dimitrovski. "Prenatal diagnosis of repetitive Ellis-van Creveld syndrome accompanied by Dandy Walker malformation - Case report." International Journal of Medical Reviews and Case Reports 5.6 (2021), 9-14. Print. doi:10.5455/IJMRCR.ellis-van-creveld-syndrome

APA (American Psychological Association) Style

Ilieva, M. P., Samardjiski, . I., Livrinova, . V., Todorovska, . I., Krstevska, . S. S., Paneva, . I., Nikoloska, . K., Belchovska, . E. S. & Dimitrovski, . S. (2021) Prenatal diagnosis of repetitive Ellis-van Creveld syndrome accompanied by Dandy Walker malformation - Case report. International Journal of Medical Reviews and Case Reports, 5 (6), 9-14. doi:10.5455/IJMRCR.ellis-van-creveld-syndrome

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