Clinical and Molecular Findings in 17 Patients with Cornelia de Lange Syndrome: Four Novel Variants and an

Introduction: Cornelia de Lange syndrome is a rare congenital malformation syndrome characterized by prenatal-onset growth retardation, with typical facial findings that include bushy eyebrows, synophrys, long and thick eyelashes, ptosis, anteverted nostrils, long philtrum, and thin and downward sloping vermilion. The syndrome is caused by mutations in Methods: The clinical and molecular results of 17 new cases of CdLS are reported. Results: The patients, who were between 2 months and 12 years of age, all had unique facial findings as well as growth retardation. Congenital malformations accompanying the syndrome in the patients were different. The molecular analysis showed genetic etiology in 13 patients, of which 2 were deletions and 11 were pathogenic missense variants in the Conclusion: By presenting the clinical and molecular results of these CdLS cases, it was aimed to expand the clinical spectrum, contribute to a better understanding of the genotype-phenotype relationship, and highlight the importance of molecular methods used in the diagnosis of genetic diseases.