Cargando…

Obstructive Sleep Apnea in a Patient with Cornelia de Lange Syndrome

Cornelia de Lange syndrome (CdLS) is a rare genetic disorder that is characterized by specific facial, skeletal, and behavioral features associated with variable degrees of intellectual disabilities. Sleep disturbances have been reported in patients with CdLS including insomnia, sleep-disordered bre...

Descripción completa

Detalles Bibliográficos
Autores principales:	Mashaqi, Saif, Hennessy, Jill, Eaton, Matthew, Erickson, Joel
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Cureus 2017
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5832399/ https://www.ncbi.nlm.nih.gov/pubmed/29507843 http://dx.doi.org/10.7759/cureus.1993

Ejemplares similares

Cornelia de lange syndrome
por: Tayebi, Naeimeh
Publicado: (2008)

Cornelia de Lange syndrome
por: Reddy, H. Babul, et al.
Publicado: (2013)

Mosaic Intronic NIPBL Variant in a Family With Cornelia de Lange Syndrome
por: Krawczynska, Natalia, et al.
Publicado: (2018)

Case Report: Novel NIPBL Variants Cause Cornelia de Lange Syndrome in Chinese Patients
por: Peng, Ying, et al.
Publicado: (2021)

Parenchymal Organ Changes in Two Female Patients With Cornelia de Lange Syndrome: Autopsy Case Report
por: Mangelov, Martin, et al.
Publicado: (2020)

Dental Findings in Cornelia De Lange Syndrome
por: Toker, Aslihan Soyal, et al.
Publicado: (2009)

Cornelia De Lange Syndrome and Cochlear Implantation
por: Psillas, George, et al.
Publicado: (2018)

Cornelia de Lange Syndrome as Paradigm of Chromatinopathies
por: Parenti, Ilaria, et al.
Publicado: (2021)

Neuropsychiatric manifestations in Cornelia de Lange syndrome
por: Majdoub, F., et al.
Publicado: (2023)

Spectrum of NIPBL gene mutations in Polish patients with Cornelia de Lange syndrome
por: Kuzniacka, Alina, et al.
Publicado: (2012)

Cornelia De-Lange Syndrome: A Case Report
por: Mehta, Diana Noshir, et al.
Publicado: (2013)

Case Report: Atypical Cornelia de Lange Syndrome
por: Leanza, Vito, et al.
Publicado: (2015)

Cornelia de Lange syndrome and cancer: An open question
por: Pallotta, Maria M., et al.
Publicado: (2022)

Anesthetic considerations in a patient with Cornelia de-Lange syndrome
por: Vestergaard, Lars, et al.
Publicado: (2015)

Cornelia de Lange Syndrome mutations in SMC1A cause cohesion defects in yeast
por: Chen, Jingrong, et al.
Publicado: (2023)

Successful Growth Hormone Therapy in Cornelia de Lange Syndrome
por: de Graaf, Michael, et al.
Publicado: (2017)

A case of Cornelia de Lange syndrome from Sudan
por: Ellaithi, Mona, et al.
Publicado: (2007)

High rate of autonomic neuropathy in Cornelia de Lange Syndrome
por: Pablo, M. J., et al.
Publicado: (2021)

Case report: A novel case of parental mosaicism in SMC1A gene causes inherited Cornelia de Lange syndrome
por: Gil-Salvador, Marta, et al.
Publicado: (2022)

Aesthetic and functional management of a patient with Cornelia de Lange syndrome
por: Johns, Dexton Antony, et al.
Publicado: (2012)

Rare cerebrovascular anomalies in a patient with Cornelia De Lange Syndrome
por: Jones, Jesse, et al.
Publicado: (2015)

Genetic Mosaicism in a Group of Patients With Cornelia de Lange Syndrome
por: Krawczynska, Natalia, et al.
Publicado: (2019)

Congenital paraesophageal hernia with gastric outlet obstruction in a neonate with Cornelia de Lange Syndrome
por: McDowell, Bryan C., et al.
Publicado: (2022)

Congenital vaginal obstruction in a female with Cornelia de Lange syndrome: A case report
por: Shen, Yiding, et al.
Publicado: (2022)

De novo NIPBL Mutations in Vietnamese Patients with Cornelia de Lange Syndrome
por: Thanh, Duong Chi, et al.
Publicado: (2020)

A newborn with Cornelia de Lange syndrome: a case report
por: Uzun, Hakan, et al.
Publicado: (2008)

Behavioral Phenotype and Autism Spectrum Disorders in Cornelia de Lange Syndrome
por: Parisi, Lucia, et al.
Publicado: (2015)

A Case of Cornelia de Lange Syndrome: Difficulty in Prenatal Diagnosis
por: Kinjo, Tadatsugu, et al.
Publicado: (2019)

Cornelia de Lange syndrome: from molecular diagnosis to therapeutic approach
por: Sarogni, Patrizia, et al.
Publicado: (2020)

Lithium as a possible therapeutic strategy for Cornelia de Lange syndrome
por: Grazioli, Paolo, et al.
Publicado: (2021)

Case Report: Prenatal Whole-Exome Sequencing to Identify a Novel Heterozygous Synonymous Variant in NIPBL in a Fetus With Cornelia de Lange Syndrome
por: Qiao, Fengchang, et al.
Publicado: (2021)

Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement
por: Kline, Antonie D., et al.
Publicado: (2018)

Cornelia de Lange DX clínico y genético : revisión bibliográfica
por: Navarro Ochoa , Luis Francisco
Publicado: (2001)

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

An experimental study of executive function and social impairment in Cornelia de Lange syndrome
por: Nelson, Lisa, et al.
Publicado: (2017)

Cornelia de Lange Syndrome with NIPBL Gene Mutation: A Case Report
por: Park, Kyung-Hee, et al.
Publicado: (2010)

BETting on a Transcriptional Deficit as the Main Cause for Cornelia de Lange Syndrome
por: García-Gutiérrez, Pablo, et al.
Publicado: (2021)

Cornelia de Lange Syndrome: From a Disease to a Broader Spectrum
por: Selicorni, Angelo, et al.
Publicado: (2021)

Cornelia de Lange syndrome with NIPBL mutation and mosaic Turner syndrome in the same individual
por: Wierzba, Jolanta, et al.
Publicado: (2012)

Genomic imbalances in patients with a clinical presentation in the spectrum of Cornelia de Lange syndrome
por: Gervasini, Cristina, et al.
Publicado: (2013)

Cannot write session to /tmp/vufind_sessions/sess_utll0tj09qcb7f9hqbggfd0b9r