Results 31 to 40 of about 1,020 (134)

A Case Report of Cornelia De Lange Syndrome in Northern Iran; A Clinical and Diagnostic Study [PDF]

Journal of Clinical and Diagnostic Research, 2016
As a rare multisystem congenital anomaly disorder, Cornelia de Lange syndrome (CdLS) is featured by delayed growth and development, distinct facial dimorphism, limb malformations and multiple organ defects. CdLS is a genetic syndrome affecting 1/10000-1/
Seyyed-Mohsen Hosseininejad, Behna Z Bazrafshan, Ehsan Alaee   +2 more
doaj   +1 more source

Behavioral phenotype and autism spectrum disorders in Cornelia de Lange syndrome

Mental Illness, 2015
Cornelia de Lange syndrome (CdLS) is a congenital disorder characterized by distinctive facial features, growth retardation, limb abnormalities, intellectual disability, and behavioral problems. Cornelia de Lange syndrome is associated with abnormalities
Lucia Parisi, Teresa Di Filippo, Michele Roccella   +2 more
doaj   +1 more source

Integrating molecular and structural findings: Wnt as a possible actor in shaping cognitive impairment in Cornelia de Lange syndrome

Orphanet Journal of Rare Diseases, 2017
Cornelia de Lange Syndrome (CdLS) is a choesinopathy: a severe genetic disorder caused by mutations in the cohesin complex genes. The phenotype is characterized by typical facial dysmorphism, growth impairment and multiorgan abnormalities including brain
Laura Avagliano, Paolo Grazioli, Milena Mariani, Gaetano P. Bulfamante, Angelo Selicorni, Valentina Massa   +5 more
doaj   +1 more source

A Cornelia De Lange Syndrome Patient with Cleft Palate: A Case Report with Intraoral and Extraoral Findings

European Annals of Dental Sciences, 2023
Objective: This case report presents the clinical and genetic findings in a one-week-old male patient with Cornelia de Lange Syndrome (CdLS) and unilateral cleft palate with a review of literature which includes case reports with cleft lip and palate ...
Beste Kamiloğlu, İsmet Ersalıcı, Gürkan Ünsal   +2 more
doaj   +1 more source

Cornelia de Lange syndrome with optic disk pit: Novel association and review of literature

Oman Journal of Ophthalmology, 2014
Cornelia de Lange syndrome (CdLS), also called Brachmann-de Lange syndrome, is a multiple congenital anomaly syndrome characterized by a distinctive facial appearance, ophthalmological abnormalities, prenatal and postnatal growth deficiency, psychomotor ...
Bhamy Hariprasad Shenoy, Amit Gupta, Virender Sachdeva, Ramesh Kekunnaya   +3 more
doaj   +1 more source

Additional file 1 of Generation of corrected hiPSC clones from a Cornelia de Lange Syndrome (CdLS) patient through CRISPR-Cas-based technology

, 2022
Additional file 1. Supplementary Figures.
Umbach, Alessandro, Maule, Giulia, Kheir, Eyemen, Cutarelli, Alessandro, Foglia, Marika, Guarrera, Luca, Fava, Luca L., Conti, Luciano, Garattini, Enrico, Terao, Mineko, Cereseto, Anna   +10 more
openaire   +1 more source

Successful difficult airway management using GlideScope video laryngoscope in a child with Cornelia de Lange Syndrome [PDF]

Yeungnam University Journal of Medicine, 2018
Management of airway in a child with Cornelia de Lange Syndrome (CdLS) should be given due consideration because most of them have the problems related to difficult airway.
Sang-Jin Park, Eun Kyung Choi, Suyong Park, Kunjin Bae, Deokhee Lee   +4 more
doaj   +1 more source

Neuropsychiatric manifestations in Cornelia de Lange syndrome

European Psychiatry, 2023
Introduction Cornelia De Lange syndrome (CdLS) is a dominant and rare genetically heterogeneous syndrome. It is characterized by a large phenotypical spectrum going from a classical to a non-classical form affecting multiple organ systems including ...
F. Majdoub, A. Souissi, M. Trabelsi, A. Ziadi, N. Belguith, F. Maazoul, M. Guirat, I. Boujelbene, H. Kamoun, R. Mrad, S. Masmoudi, I. Ben Ayed   +11 more
doaj   +1 more source

Surgical treatment of esotropia and unilateral ptosis in a patient with Cornelia de Lange syndrome [PDF]

Yeungnam University Journal of Medicine, 2019
Cornelia de Lange syndrome (CdLS) is a rare multisystemic disorder that is characterized by mental retardation, prenatal and postnatal growth retardation, limb anomalies, and distinctive facial features, which include arched eyebrows that often meet in ...
Won Jae Kim
doaj   +1 more source

Cornelia De Lange Syndrome: A Case Report [PDF]

Journal of Tehran University Heart Center, 2009
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 ...
Mohammad Yousef Aarabi Moghaddam, Hojatollah Mortezaian, Seyed Reza Miri   +2 more
doaj   +1 more source