Fetal phenotype of Cornelia de Lange syndrome with a molecular confirmation

Yu, Qiuxia; Jing, Xiangyi; Lin, Xiao‐Mei; Li, Zhen; Li, Dong-Zhi

doi:10.1016/j.ejogrb.2023.03.005

Cited by 1 publication

(1 citation statement)

References 22 publications

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“…However, these signs could be related to the genetic pathogenetic variants: a recent case study revealed that all eight cases with NIPBL pathogenetic variants considered, had prenatal ultrasound markers, among them micrognathia, limb anomalies and fetal growth restriction. Conversely, cases caused by pathogenetic variants in SMC1A or HDAC8 had normal ultrasound reports during pregnancy (Yu et al, 2023). Mio et al (2021) described a de novo mutation in HDAC8 where during prenatal screening were observed fetal growth restriction, oligohydramnios, and decreased fetal movements.…”

Section: Fetal Undergrowthmentioning

confidence: 99%

Intrauterine growth in chromatinopathies: A long road for better understanding and for improving clinical management

Avagliano,

Castiglioni,

Lettieri

et al. 2024

Birth Defects Research

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BackgroundChromatinopathies are a heterogeneous group of genetic disorders caused by pathogenic variants in genes coding for chromatin state balance proteins. Remarkably, many of these syndromes present unbalanced postnatal growth, both under‐ and over‐, although little has been described in the literature. Fetal growth measurements are common practice in pregnancy management and values within normal ranges indicate proper intrauterine growth progression; on the contrary, abnormalities in intrauterine fetal growth open the discussion of possible pathogenesis affecting growth even in the postnatal period.MethodsAmong the numerous chromatinopathies, we have selected six of the most documented in the literature offering evidence about two fetal overgrowth (Sotos and Weaver syndrome) and four fetal undergrowth syndromes (Bohring Opitz, Cornelia de Lange, Floating‐Harbor, and Meier Gorlin syndrome), describing their molecular characteristics, maternal biochemical results and early pregnancy findings, prenatal ultrasound findings, and postnatal characteristics.Results/ConclusionTo date, the scarce data in the literature on prenatal findings are few and inconclusive, even though these parameters may contribute to a more rapid and accurate diagnosis, calling for a better and more detailed description of pregnancy findings.

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Section: Fetal Undergrowthmentioning

confidence: 99%