Abstract
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 retardation, upper limb reduction defects, hirsutism, and developmental delay. Non-classical phenotypes make this condition heterogeneous. Although CDLS is a heterogeneous clinical and genetic condition, clear diagnostic criteria have been described by specialist consensus. Many of these criteria refer to features that can be seen on prenatal ultrasound. The aim of this paper is twofold: to present the ultrasound findings in fetuses affected by CDLS syndrome; to discuss the recent advances and the limitations in the ultrasound and genetic prenatal diagnosis of CDLS. Our review aims to offer, apart from the data needed to understand the genetics and the prenatal presentation of the disease, a joint perspective of the two specialists involved in the prenatal management of this pathology: the fetal medicine specialist and the geneticist. To better illustrate the data presented, we also include a representative clinical case.
Highlights
Corelia de Lange syndrome (CDLS) which, in typical cases, is recognizable is a genetic disease (OMIM entries 122470, 300040, 300269, 300590, 300882, 606062, 606462, 608667, 610759, and 614701) with heterogeneous clinical presentation and many possible causal genes [1,2]
The CDLS phenotype can be characterized as a spectrum to which the classic CDLS phenotype belongs as well as similar but non-classic phenotypes caused by pathogenic variants in genes involved in cohesin functioning [1,2,3,4,5,6,7]
The typical Cornelia de Lange (CDLS) phenotype is characterized by distinctive craniofacial appearance, growth retardation, reductional limb defects, hirsutism, and neurocognitive delay [1,2,3,4,5,6,7]
Summary
Anca Maria Panaitescu 1,2,*, Simona Duta 2, Nicolae Gica 1,2 , Radu Botezatu 1,2 , Florina Nedelea 2,3, Gheorghe Peltecu 1,2 and Alina Veduta 2. Publisher’s Note: MDPI stays neutral with regard to jurisdictional claims in published maps and institutional affiliations
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