Cornelia De Lange Syndrome: A Case Report

Cornelia De Lange Syndrome: A Case Report

Show other versions (1)

Cornelia de Lange syndrome (CdLS) is a rare syndrome characterized by multiple congenital anomalies, mental retardation, characteristic facial appearance, developmental delay, skeletal malformation, hirsutism, and various cardiac and ophthalmological problems. The diagnosis of this syndrome is clini...

Full description

Bibliographic Details
Main Authors:	Hojatollah Mortezaian, Mohammad Yousef Aarabi Moghaddam, Seyed Reza Miri
Format:	Article
Language:	English
Published:	Tehran University of Medical Sciences 2009-12-01
Series:	Journal of Tehran University Heart Center
Subjects:	De Lange Syndrome Dyspnea Heart Murmurs Congenital Abnormalities
Online Access:	http://journals.tums.ac.ir/PdfMed.aspx?pdf_med=/upload_files/pdf/14822.pdf&manuscript_id=14822

Similar Items

Cornelia De Lange Syndrome: A Case Report
by: Mohammad Yousef Aarabi Moghaddam, et al.
Published: (2009-10-01)

Cornelia de-Lange syndrome - A case report
by: Charvi Chawla, et al.
Published: (2018-01-01)

Cornelia de-Lange syndrome
by: Gupta D, et al.
Published: (2005-03-01)

An eighteen month-old infant with Cornelia de Lange syndrome: a case report
by: Reza saeidi, et al.
Published: (2015-12-01)

Integrating molecular and structural findings: Wnt as a possible actor in shaping cognitive impairment in Cornelia de Lange syndrome
by: Laura Avagliano, et al.
Published: (2017-11-01)

An Endocrinological approach to Cornelia de Lange Syndrome
by: Mirela Elena Iancu, et al.
Published: (2022-03-01)

Cornelia de Lange Syndrome and Psychiatric’s Assistance
by: Katharina Merry Apriliani, et al.
Published: (2020-09-01)

Cornelia De Lange Syndrome and Cochlear Implantation
by: George Psillas, et al.
Published: (2018-11-01)

Behavioral phenotype and autism spectrum disorders in Cornelia de Lange syndrome
by: Lucia Parisi, et al.
Published: (2015-09-01)

Cornelia de Lange Syndrome as Paradigm of Chromatinopathies
by: Ilaria Parenti, et al.
Published: (2021-11-01)

Surgical treatment of esotropia and unilateral ptosis in a patient with Cornelia de Lange syndrome
by: Won Jae Kim
Published: (2019-05-01)

Gambaran Perkembangan Komunikasi Anak Cornelia de Lange Syndrome (CdLS)
by: Tri Retno Indah Susanti, et al.
Published: (2019-05-01)

Aesthetic and functional management of a patient with Cornelia de Lange syndrome
by: Dexton Antony Johns, et al.
Published: (2012-01-01)

An experimental study of executive function and social impairment in Cornelia de Lange syndrome
by: Lisa Nelson, et al.
Published: (2017-09-01)

Littoral cell angioma of the spleen in a child with Cornelia De Lange syndrome
by: Naeem Liaqat, et al.
Published: (2021-06-01)

Successful difficult airway management using GlideScope video laryngoscope in a child with Cornelia de Lange Syndrome
by: Sang-Jin Park, et al.
Published: (2018-12-01)

Clinical and genetic study of 20 patients from China with Cornelia de Lange syndrome
by: Mingyan Hei, et al.
Published: (2018-02-01)

Application of exome sequencing to diagnose a novel presentation of the Cornelia de Lange syndrome in an Afro‐Caribbean family
by: Wayne Thompson, et al.
Published: (2020-08-01)

A Broader Perspective on the Prenatal Diagnosis of Cornelia de Lange Syndrome: Review of the Literature and Case Presentation
by: Anca Maria Panaitescu, et al.
Published: (2021-01-01)

Genetic Mosaicism in a Group of Patients With Cornelia de Lange Syndrome
by: Natalia Krawczynska, et al.
Published: (2019-05-01)

Cornelia de Lange syndrome – characteristics and laparoscopic treatment modalities of reflux based on own material
by: Robert Szyca, et al.
Published: (2011-09-01)

Case Report: Novel NIPBL Variants Cause Cornelia de Lange Syndrome in Chinese Patients
by: Ying Peng, et al.
Published: (2021-07-01)

Congenital paraesophageal hernia with gastric outlet obstruction in a neonate with Cornelia de Lange Syndrome
by: Bryan C. McDowell, MD, et al.
Published: (2022-05-01)

Cornelia de Lange syndrome with optic disk pit: Novel association and review of literature
by: Bhamy Hariprasad Shenoy, et al.
Published: (2014-01-01)

Behavioural and psychological characteristics in Pitt-Hopkins syndrome: a comparison with Angelman and Cornelia de Lange syndromes
by: Alice Watkins, et al.
Published: (2019-10-01)

Early Prenatal Diagnosis of Cornelia de Lange's Syndrome with Whole-Exome Sequencing: A Case Report
by: Amna Iftikhar, et al.
Published: (2024-01-01)

Case study of girl with Cornelia de Lange syndrome
by: Adelaida Fábianová, et al.
Published: (2023-06-01)

Evaluation of the heart sounds in children using a Doppler Phonolyser
by: Mohammad Reza Khalilian, et al.
Published: (2023-03-01)

A Cornelia De Lange Syndrome Patient with Cleft Palate: A Case Report with Intraoral and Extraoral Findings
by: Beste Kamiloğlu, et al.
Published: (2023-12-01)

Mosaic Intronic NIPBL Variant in a Family With Cornelia de Lange Syndrome
by: Natalia Krawczynska, et al.
Published: (2018-07-01)

MAU2 and NIPBL Variants Impair the Heterodimerization of the Cohesin Loader Subunits and Cause Cornelia de Lange Syndrome
by: Ilaria Parenti, et al.
Published: (2020-05-01)

A Novel de Novo Variant in 5′ UTR of the <i>NIPBL</i> Associated with Cornelia de Lange Syndrome
by: Yonghua Chen, et al.
Published: (2022-04-01)

Communication Profile of de Lange Syndrome
by: Susmi Pani, et al.
Published: (2021-02-01)

Neurobehavioral and developmental profiles: genotype–phenotype correlations in individuals with Cornelia de Lange syndrome
by: Rowena Ng, et al.
Published: (2024-03-01)

Analysis of clinical and genetic characteristics in 10 Chinese individuals with Cornelia de Lange syndrome and literature review
by: Chen Liu, et al.
Published: (2020-10-01)

A novel de novo HDAC8 missense mutation causing Cornelia de Lange syndrome
by: Catia Mio, et al.
Published: (2021-09-01)

Cornelia de Lange syndrome with <it>NIPBL</it> mutation and mosaic Turner syndrome in the same individual
by: Wierzba Jolanta, et al.
Published: (2012-06-01)

Soplo cardíaco en menores de 2 años: buscando una estrategia de derivación eficiente y segura
by: Moisés Rodríguez-González, et al.
Published: (2018-11-01)

Congenital vaginal obstruction in a female with Cornelia de Lange syndrome: A case report
by: Yiding Shen, et al.
Published: (2022-08-01)

Targeted Gene Sequencing, Bone Health, and Body Composition in Cornelia de Lange Syndrome
by: Ángel Matute-Llorente, et al.
Published: (2021-01-01)