Panaitescu Anca Maria, Duta Simona, Gica Nicolae, Botezatu Radu, Nedelea Florina, Peltecu Gheorghe, Veduta Alina
Department of Obstetrics and Gynecology, Carol Davila University of Medicine and Pharmacy, 020021 Bucharest, Romania.
Filantropia Clinical Hospital, 11171 Bucharest, Romania.
Diagnostics (Basel). 2021 Jan 19;11(1):142. doi: 10.3390/diagnostics11010142.
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.
科妮莉亚·德朗热综合征（CDLS）由作为黏连蛋白复合体结构或调节成分的基因中的致病变异引起。典型的科妮莉亚·德朗热（CDLS）表型的特征为独特的面部特征、生长发育迟缓、上肢发育不全缺陷、多毛症和发育迟缓。非典型表型使这种病症具有异质性。尽管CDLS是一种临床和遗传异质性病症，但专家共识已描述了明确的诊断标准。其中许多标准涉及产前超声可见的特征。本文的目的有两个：介绍受CDLS综合征影响胎儿的超声检查结果；讨论CDLS超声和遗传产前诊断的最新进展及局限性。我们的综述旨在除了提供理解该疾病遗传学和产前表现所需的数据外，还提供参与该病症产前管理的两位专家（胎儿医学专家和遗传学家）的联合观点。为了更好地说明所呈现的数据，我们还纳入了一个具有代表性的临床病例。
