Prenatal/neonatal pathology in two cases of Cornelia de Lange syndrome harboring novel mutations of NIPBL

Lalatta, Faustina; Russo, Silvia; Gentilin, Barbara; Spaccini, Luigina; Boschetto, Chiara; Cavalleri, F.; Masciadri, Maura; Gervasini, Cristina; Bentivegna, Angela; Castronovo, Paola; Larizza, Lidia

doi:10.1097/gim.0b013e31803183dd

Cited by 19 publications

(22 citation statements)

References 23 publications

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“…There have been a few fetal autopsies reported in cases with CdLS (Lalatta et al, 2007). In the three cases reported by us, the facial features were characteristic with classical appearance of CdLS.…”

Section: Discussionsupporting

confidence: 51%

“…Most cases with CdLS were initially identified by detailed fetal ultrasounds in the second and third trimesters of pregnancy (Urban and Hartung, 2001;Marino et al, 2002;Lalatta et al, 2007) showing IUGR and limb abnormalities. Sekimoto et al (2000) compared the prenatal findings in 10 reported cases of CdLS and reported IUGR, limb defects, diaphragmatic hernia and abnormal face to be the most frequent ultrasound findings.…”

Section: Discussionmentioning

confidence: 99%

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Cornelia de Lange syndrome (CdLS): prenatal and autopsy findings

et al. 2009

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Cornelia de Lange Syndrome (CdLS) is a multisystem disorder characterized by somatic defects and mental retardation. Prenatal diagnosis of this severe condition is difficult in view of the non-specific ultrasound abnormalities. We report three cases with prenatally suspected CdLS based on the ultrasound findings as well as low PAPP-A detected on first trimester screening in one case, and the results of the autopsy and the NIPBL gene mutation analysis.

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Section: Discussionsupporting

confidence: 51%

Section: Discussionmentioning

confidence: 99%

Cornelia de Lange syndrome (CdLS): prenatal and autopsy findings

et al. 2009

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“…Low levels of maternal pregnancy-associated plasma protein-A have been reported in the first and second trimesters. [20][21][22] Abnormal ultrasonic findings included increased nuchal translucency in the first trimester 23 ; growth restriction, diaphragmatic hernia and other major organ malformations, characteristic facial profile and abnormalities of the extremities in the second trimester [24][25][26][27] ; and intrauterine growth retardation and macrocephaly in the third trimester. Diaphragmatic hernia recurrently identified prenatally [27][28][29][30][31] and CdLS may be particularly considered in association with upper limb anomalies.…”

Section: Prenatal Presentation and Recurrence Risksmentioning

confidence: 98%

Cornelia de Lange Syndrome

Liu

Baynam

2010

Advances in Experimental Medicine and Biology

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C ornelia de Lange syndrome (CdLS) (OMIM # 122470, #300590 and #610759) is an autosomal dominant disorder that is classically characterized by typical facial features, growth and mental retardation, upper limb defects, hirsutism, gastrointestinal and other visceral system involvement. Heterozygous mutations in the cohesin regulator, NIPBL, or the cohesin structural components SMC1A and SMC3, have been identified in approximately 65% of individuals with CdLS. Cohesin regulates sister chromatid cohesion during the mitotis and meiosis. In addition, cohesin has been demonstrated to play a critical role in the regulation of gene expression. Furthermore, multiple proteins in the cohesin pathway are also involved in additional fundamental biological events such as double strand DNA break repair, chromatin remodeling and maintaining genomic stability. Here, we will discuss the biology of cohesin and its associated factors, with emphasis on the clinical manifestations of CdLS and mechanistic studies of the CdLS related proteins.

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“…Prenatal diagnosis of CdLS has rarely been reported, but is usually suspected based upon ultrasound findings, which is confirmed postnatally [9][10][11][12][13] . Prenatal diagnosis of CdLS is difficult for several reasons: (i) most cases occur de novo without family history; (ii) the ultrasound findings can be suggestive but are not pathognomonic for CdLS, and (iii) the disease genes are very large and difficult to sequence, certainly within the small time window between the suspicion of CdLS based upon ultrasound findings near mid pregnancy and 24 weeks of gestation until which termination of pregnancy is legally and ethically permitted.…”

Section: Discussionmentioning

confidence: 99%

Cornelia de Lange Syndrome: A Recognizable Fetal Phenotype

Wilmink

Papatsonis

Grijseels³

et al. 2009

Fetal Diagn Ther

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We describe a fetus with Cornelia de Lange syndrome diagnosed after termination of pregnancy at 21 weeks. Prenatally, growth retardation, diaphragmatic hernia, cystic hygroma and a right hand with only three rays were diagnosed by ultrasound in the second trimester of pregnancy. Postnatal magnetic resonance imaging confirmed the prenatal findings, and the presence of the typical dysmorphic features led to the diagnosis of Cornelia de Lange syndrome. The diagnosis was confirmed by the finding of a truncating mutation in the NIPBL gene. This case illustrates that the diagnosis Cornelia the Lange syndrome can be suspected prenatally in the second trimester, and can be diagnosed in fetuses after induction or newborns at birth as the typical phenotype is present early.

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Prenatal/neonatal pathology in two cases of Cornelia de Lange syndrome harboring novel mutations of NIPBL

Cited by 19 publications

References 23 publications

Cornelia de Lange syndrome (CdLS): prenatal and autopsy findings

Cornelia de Lange syndrome (CdLS): prenatal and autopsy findings

Cornelia de Lange Syndrome

Cornelia de Lange Syndrome: A Recognizable Fetal Phenotype

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