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

Panaitescu, Anca Maria; Duţă, Simona; Gică, Nicolae; Botezatu, Radu; Nedelea, Florina; Peltecu, Gheorghe; Veduță, Alina

doi:10.3390/diagnostics11010142

Cited by 10 publications

(10 citation statements)

References 64 publications

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“…Таким образом, спектр дифференциальной диагностики синдрома Корнелии де Ланге в пренатальном периоде очень широк и включает различные генетические синдромы, которые характеризуются лицевыми дисморфиями и редукционным поражением верхних конечностей [39].…”

Section: Discussionunclassified

Prenatal Ultrasound Signs of Cornelia de Lange Syndrome in Monochorionic Twins: Case Study

Normuradova

Khujakulov

Ergasheva

et al. 2022

Vopr. sovr. pediatr.

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Background. Cornelia de Lange syndrome is rare genetic disease manifested by short stature, limb abnormalities, craniofacial dysmorphies, and developmental delay. Syndrome prenatal detection is crucial during ultrasound diagnosis.Clinical case description. Growth delay of both children (body weight indicators were less than the 1st percentile) without any pathological changes in utero-fetoplacental perfusion (according to Doppler) was revealed during the ultrasound examination of monochorial twins in the II trimester of pregnancy. Hydramnious was noted. Fetal echocardiography has revealed transposition of main arteries in the first intrauterine child. Examination of fetus facial structures has shown nose bridge depression, upturned nose, elongated filter, and micrognathy. Second child has shown features of heterotypic abnormalities of upper limbs. One forearm bone was missing on the left side, presumably ulnar, the radial bone was shortened, and there was oligodactyly (only 2 fingers were visualized). There was no digitus annularis on the right hand, and there was clinodactyly of the fifth finger. Genetic testing was not performed due to the inaccessibility of this method in the country of residence and the financial limitations of the family to perform it elsewhere. Male twins were born prematurely on 35th week of pregnancy with weight of 1680 and 1640 (body weight indicators were less than the 5th percentile). Babies were consulted by the geneticist after birth, clinical diagnosis of Cornelia de Lange syndrome was established. The child with heart defect died on the 23rd day of his life, the second was discharged in satisfactory condition.Conclusion. Cornelia de Lange syndrome may manifest in monochorionic twins. The diagnosis of intrauterine growth delay in the II-III trimesters of pregnancy, without impaired uterofeto-placental perfusion, especially associated with hydramnious, requires searching for structural abnormalities and examination of facial dysmorphies specific for chromosomal or genetic diseases.

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Section: Discussionunclassified

Prenatal Ultrasound Signs of Cornelia de Lange Syndrome in Monochorionic Twins: Case Study

Normuradova

Khujakulov

Ergasheva

et al. 2022

Vopr. sovr. pediatr.

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“…Cardiac malformations, although not exclusive to CdLS, are also noted and are essential for prognosis and management. The text concludes by emphasizing the role of volumetric ultrasound in identifying the distinct phenotype of classic CdLS [40,41].…”

Section: Prenatal Diagnosismentioning

confidence: 99%

Advancing the Clinical and Molecular Understanding of Cornelia De Lange Syndrome: A Multidisciplinary Pediatrics Case Series and Review of Literature

Gruca-Stryjak,

Doda-Nowak,

Dzierla

et al. 2024

Preprint

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Cornelia de Lange syndrome (CdLS) is a complex genetic disorder with a distinct set of facial features, growth limitations, and limb anomalies. Its clinical spectrum is broad and presents significant challenges in pediatric diagnosis and management. The variable presentation of the disorder, due to cohesin complex mutations, requires extensive research to refine care and improve outcomes. This article provides a case series review of pediatric CdLS patients, alongside a comprehensive literature review, exploring clinical variability and the relationship between genotypic changes and phenotypic outcomes. It also discusses the evolution of diagnostic and therapeutic techniques, with an emphasis on innovations in genetic testing, including the detection of mosaicism and novel genetic variations. The aim is to synthesise case studies with current research to advance our understanding of CdLS and the effectiveness of management strategies in pediatric healthcare. This work highlights the need for an integrated, evidence-based approach to diagnosis and treatment, and aims to fill existing research gaps and advocate for holistic care protocols and tailored treatment plans for CdLS patients, ultimately improving their quality of life.

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“…In families who have had a previous child with CdLS and a known mutation, this test may be helpful in determining which gene is impacted. [7] However, identifying the outcome with accuracy in families without a previous child with CdLS would be difficult or impossible, and substantial interpretation would be required. This method cannot be used to assess Mosaicism.…”

Section: Physical Therapy Research and Practicementioning

confidence: 99%

Scoping review of Physiotherapy intervention for a rare disease Cornelia de Lange Syndrome (CdLS)/ Brachman de Lange syndrome in children

Arishi,

Shammakhi,

Qasheesh

et al. 2024

IJOPRP

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Introduction: Cornelia de Lange syndrome (CdLS) is a rare genetic disease. Children with CdLS typically require physical therapy, however evidence on the efficacy of Physiotherapy intervention in this population is limited. Objective: The aim of this review is to design Physiotherapy treatment protocol for the CdLS population. Study Eligibility Criteria: ‏Articles published only in English between July, 2006 and February, 2022 were included which investigated the role of Physiotherapy to CDLS patients. Method: We use six databases which includes, MEDLINE/PubMed, SCOPUS, PEDro, CINAHL, EBSCO and Cochrane were searched with predefined keywords specific to or related to PT interventions from 2006 to February, 2022 for the full-text English language articles. Results: from the 12 articles identified, 6 papers were involved in the review which was deemed as being of high quality. Conclusion: Physiotherapy treatments are playing an important role in improving fine and gross motor function and participation during daily activities in a child with CdLS. Recommendations: To evaluate the efficacy of Physiotherapy treatments in children with CdLS, bigger group studies are needed.

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

Cited by 10 publications

References 64 publications

Prenatal Ultrasound Signs of Cornelia de Lange Syndrome in Monochorionic Twins: Case Study

Prenatal Ultrasound Signs of Cornelia de Lange Syndrome in Monochorionic Twins: Case Study

Advancing the Clinical and Molecular Understanding of Cornelia De Lange Syndrome: A Multidisciplinary Pediatrics Case Series and Review of Literature

Scoping review of Physiotherapy intervention for a rare disease Cornelia de Lange Syndrome (CdLS)/ Brachman de Lange syndrome in children

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