ArticleMolecular syndromology2025
Ellis-Van Creveld Syndrome with Severe Mitral Valve Insufficiency Caused by a Homozygous Intragenic Deletion of the
Article in Molecular syndromology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
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 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 Conclusion: Herein, we present a case with an intragenic deletion of the
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