A Broader Perspective on the Prenatal Diagnosis of Cornelia de Lange Syndrome: Review of the Literature and Case Presentation

Panaitescu, Anca Maria; Duta, Simona; Gica, Nicolae; Botezatu, Radu; Nedelea, Florina; Peltecu, Gheorghe; Veduta, Alina

doi:10.3390/diagnostics11010142

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A Broader Perspective on the Prenatal Diagnosis of Cornelia de Lange Syndrome: Review of the Literature and Case Presentation

Anca Maria Panaitescu

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Department of Obstetrics and Gynecology, Carol Davila University of Medicine and Pharmacy, 020021 Bucharest, Romania

Filantropia Clinical Hospital, 011171 Bucharest, Romania

Department of Genetics, Carol Davila University of Medicine and Pharmacy, 020021 Bucharest, Romania

Author to whom correspondence should be addressed.

Diagnostics 2021, 11(1), 142; https://doi.org/10.3390/diagnostics11010142

Received: 25 November 2020 / Revised: 15 January 2021 / Accepted: 16 January 2021 / Published: 19 January 2021

(This article belongs to the Section Medical Imaging and Theranostics)

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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. View Full-Text

Keywords: Cornelia de Lange; genetic syndrome; prenatal diagnosis; ultrasound

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MDPI and ACS Style

Panaitescu, A.M.; Duta, S.; Gica, N.; Botezatu, R.; Nedelea, F.; Peltecu, G.; Veduta, A. A Broader Perspective on the Prenatal Diagnosis of Cornelia de Lange Syndrome: Review of the Literature and Case Presentation. Diagnostics 2021, 11, 142. https://doi.org/10.3390/diagnostics11010142

AMA Style

Panaitescu AM, Duta S, Gica N, Botezatu R, Nedelea F, Peltecu G, Veduta A. A Broader Perspective on the Prenatal Diagnosis of Cornelia de Lange Syndrome: Review of the Literature and Case Presentation. Diagnostics. 2021; 11(1):142. https://doi.org/10.3390/diagnostics11010142

Chicago/Turabian Style

Panaitescu, Anca M., Simona Duta, Nicolae Gica, Radu Botezatu, Florina Nedelea, Gheorghe Peltecu, and Alina Veduta. 2021. "A Broader Perspective on the Prenatal Diagnosis of Cornelia de Lange Syndrome: Review of the Literature and Case Presentation" Diagnostics 11, no. 1: 142. https://doi.org/10.3390/diagnostics11010142

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A Broader Perspective on the Prenatal Diagnosis of Cornelia de Lange Syndrome: Review of the Literature and Case Presentation

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