Mutational Screening and Prenatal Diagnosis in Cornelia de Lange syndrome

Dave, Usha; Shetty, Dhanlaxmi

doi:10.1007/s13224-013-0450-y

Cited by 4 publications

(4 citation statements)

References 17 publications

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“…Prenatal diagnosis of CdLS is difficult, with an ultrasound after the 18th gestational week and family history of CdLS being the only two mechanisms of suspecting the presence of the condition [3,6,10]. The safety of ultrasonography makes it a powerful tool in the hands of gynecologists, obstetricians, and pediatricians.…”

Section: Discussionmentioning

confidence: 99%

“…The safety of ultrasonography makes it a powerful tool in the hands of gynecologists, obstetricians, and pediatricians. A thorough examination and close attention should be made to the face profile, arms, and hands, fingers, internal organ changes such as heart defects, diaphragmatic hernia, or gastrointestinal defects [ 2 - 4 , 6 , 10 ]. Ultrasound examination is not the perfect tool to exclude the possibility of the syndrome, but it’s a convenient way to detect severe cases [ 6 , 10 ].…”

Section: Discussionmentioning

confidence: 99%

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Parenchymal Organ Changes in Two Female Patients With Cornelia de Lange Syndrome: Autopsy Case Report

Mangelov

Balgarinova

Zaykova

et al. 2020

Cureus

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Parenchymal Organ Changes in Two Female Patients With Cornelia de Lange Syndrome: Autopsy Case Report

Mangelov

Balgarinova

Zaykova

et al. 2020

Cureus

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“…The IUGR is usually symmetrical and the estimated fetal weight is often <5th centile by birth. 5,6 Asymmetric defects in the upper limbs, particularly distally, are described as the most suggestive prenatal finding. 4 Other structural defects, such as congenital diaphragmatic hernia (CDH) and cardiac defects, may be observed.…”

Section: Discussionmentioning

confidence: 99%

Clinical Diagnosis of Classical Cornelia de Lange Syndrome Made From Postmortem Examination of Second Trimester Fetus With Novel NIPBL Pathogenic Variant

et al. 2019

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Classical Cornelia de Lange syndrome (CdLS) is a rare genetic disorder which is associated with distinctive facial features, growth retardation, significant intellectual disability and global developmental delay, hirsutism, and upper-limb reduction defects. Classical CdLS is associated with pathogenic variants in NIPBL. We present a clinical diagnosis of classical CdLS made in a second trimester male fetus with advanced maceration who had undergone intrauterine death at 15 + 6 weeks gestation. The diagnosis was suspected after multiple congenital anomalies were identified on fetal postmortem examination. These included intrauterine growth retardation, upper limb anomalies, ventricular septal defect and diaphragmatic hernia, and skeletal and genitourinary abnormalities. Related prenatal screening findings included a raised nuchal translucency and low maternal serum pregnancy-associated plasma protein-A. Targeted molecular sequencing of genes associated with CdLS identified a novel de novo frameshift pathogenic variant in NIPBL, which confirmed the diagnosis. This report describes our case and reviews the current literature on prenatal diagnosis of CdLS. In summary, we demonstrate that clinical diagnosis of CdLS in a second trimester fetus, through postmortem examination findings, is possible, with confirmation through molecular testing.

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“…Type-II and Type-III CdLS have better prognosis as compared to Type-I CdLS ( 4 ). The above mentioned genes help in the formation/functioning of cohesin, a multiprotein complex, which helps in chromosomal structural organization required for genomic maintenance and gene expression ( 5 ).…”

Section: Discussionmentioning

confidence: 99%

Cornelia De Lange Syndrome In A 4-Year-Old Child From India: Phenotype Description And Role Of Genetic Counseling

Meshram¹,

Kaur²,

Hura³

2018

Med Arch

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Introduction:Cornelia de Lange syndrome (CdLS) is a congenital disorder marked by distinctive facial features, severe growth restriction, cognitive disability, global developmental delay, and anomalies involving multiple body organs. Majority cases of CdLS are caused due to sporadic mutations in the NIPBL, SMC1A, SMC3, RAD21, or HDAC8 genes, which form/regulate a multiprotein complex called cohesin. Cohesin is required for the separation of sister chromatids during cell division.Case report:We present a rare case of a 4-year-old child from India depicting classical features of CdLS. The patient was managed symptomatically by a multidisciplinary team and was requested regular follow-ups.Conclusion:Phenotype description according to ethnicity may help in diagnosing CdLS. A multipronged approach by a team of physicians from various faculties is required for providing comprehensive medical care to patients with CdLS.

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Mutational Screening and Prenatal Diagnosis in Cornelia de Lange syndrome

Cited by 4 publications

References 17 publications

Parenchymal Organ Changes in Two Female Patients With Cornelia de Lange Syndrome: Autopsy Case Report

Parenchymal Organ Changes in Two Female Patients With Cornelia de Lange Syndrome: Autopsy Case Report

Clinical Diagnosis of Classical Cornelia de Lange Syndrome Made From Postmortem Examination of Second Trimester Fetus With Novel NIPBL Pathogenic Variant

Cornelia De Lange Syndrome In A 4-Year-Old Child From India: Phenotype Description And Role Of Genetic Counseling

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