- Review
A Broader Perspective on the Prenatal Diagnosis of Cornelia de Lange Syndrome: Review of the Literature and Case Presentation
- Anca Maria Panaitescu,
- Simona Duta,
- Nicolae Gica,
- Radu Botezatu,
- Florina Nedelea,
- Gheorghe Peltecu and
- Alina Veduta
Cornelia de Lange syndrome (CDLS) is caused by pathogenic variants in genes which are structural or regulatory components of the cohesin complex. The classical Cornelia de Lange (CDLS) phenotype is characterized by distinctive facial features, growth...

