Ellis-Van Creveld Syndrome with Severe Mitral Valve Insufficiency Caused by a Homozygous Intragenic Deletion of the Gene.

INTRODUCTION

Ellis-Van Creveld syndrome is a rare genetic disorder characterised by skeletal abnormalities, cardiac anomalies, and findings of hidrotic ectodermal dysplasia. Cardiac anomalies are common in this syndrome and usually include an atrial septal defect when present. The disorder is caused by homozygous or compound heterozygous pathogenic variants in the and genes. A small number of patients with Ellis-Van Creveld syndrome have also been found to have copy number variants associated with these two genes.

CASE PRESENTATION

A 13-year-old girl patient was referred to the paediatric genetic department with short stature, short extremities, operated post-axial polydactyly, nail hypoplasia, and severe mitral valve insufficiency. Chromosomal microarray analysis identified a 45 kb homozygous deletion encompassing exons 3-11 of the gene at 4p16.2.

CONCLUSION

Herein, we present a case with an intragenic deletion of the gene and expand the clinical and genetic spectrum of Ellis-Van Creveld syndrome.