Cargando…

Pulmonary hypertension due to obstructive sleep apnea in a child with Rubinstein-Taybi syndrome

Rubinstein-Taybi syndrome (RTS) is characterized by peculiar facies, mental retardation, broad thumbs, and great toes. Approximately one-third of the affected individuals have a variety of congenital heart diseases. They can also have upper airway obstruction during sleep, due to hypotonia and the a...

Descripción completa

Detalles Bibliográficos
Autores principales:	Choi, Hyung Soon, Yu, Jeong Jin, Kim, Young-Hwue, Ko, Jae-Kon, Park, In-Sook
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	The Korean Pediatric Society 2012
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3382702/ https://www.ncbi.nlm.nih.gov/pubmed/22745646 http://dx.doi.org/10.3345/kjp.2012.55.6.212

Ejemplares similares

Rubinstein–Taybi syndrome
por: Ravella, Ranjith, et al.
Publicado: (2020)

Rubinstein-Taybi syndrome with scoliosis
por: Tatara, Yasunori, et al.
Publicado: (2011)

Rubinstein–Taybi Syndrome with Psychosis
por: Nayak, Raghavendra B., et al.
Publicado: (2012)

Tricuspid atresia and pulmonary atresia in a child with Rubinstein-Taybi syndrome
por: Loomba, Rohit S, et al.
Publicado: (2015)

Management of Anesthesia for Rubinstein-Taybi syndrome
por: Park, Cheon-Hee, et al.
Publicado: (2012)

Barrett's Esophagus in Rubinstein-Taybi Syndrome
por: Kumar, Prabhat, et al.
Publicado: (2020)

Rubinstein-Taybi Syndrome: A Case Report
por: Münevveroglu, A. P., et al.
Publicado: (2012)

Rubinstein–Taybi syndrome with agenesis of corpus callosum
por: Mishra, Shubhankar, et al.
Publicado: (2015)

Keloids: An Unwanted Spontaneity in Rubinstein-Taybi Syndrome
por: Shilpashree, P, et al.
Publicado: (2015)

Benign and malignant tumors in Rubinstein–Taybi syndrome
por: Boot, Max V., et al.
Publicado: (2018)

Multiple pilomatricomas in twins with Rubinstein-Taybi syndrome()()
por: Bueno, Ana Laura Andrade, et al.
Publicado: (2020)

Genetic and clinical heterogeneity in Korean patients with Rubinstein–Taybi syndrome
por: Choi, Naye, et al.
Publicado: (2021)

Septate Uterus in a Girl with Rubinstein–Taybi Syndrome
por: de Castro Coelho, Filipa, et al.
Publicado: (2018)

Rubinstein-Taybi Syndrome: A Rare Case Report
por: Tomar, Suyash S., et al.
Publicado: (2020)

Rubinstein-Taybi Syndrome: A Model of Epigenetic Disorder
por: Van Gils, Julien, et al.
Publicado: (2021)

Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients
por: Bentivegna, Angela, et al.
Publicado: (2006)

Fluorescein angiography findings in a case of Rubinstein-Taybi syndrome
por: Jacobs, David J, et al.
Publicado: (2012)

Patent Ductus Arteriousus Device Closure in an Infant with Rubinstein–Taybi Syndrome
por: Aghaei-Moghadam, Ehsan, et al.
Publicado: (2013)

Rubinstein-Taybi syndrome: Clinical profile of 11 patients and review of literature
por: Kumar, Suresh, et al.
Publicado: (2012)

Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management
por: Milani, Donatella, et al.
Publicado: (2015)

Rubinstein-Taybi Syndrome Associated with Pituitary Macroadenoma: A Case Report
por: Olyaei, Yasamin, et al.
Publicado: (2017)

Rubinstein–Taybi syndrome 2 with cerebellar abnormality and neural tube defect
por: Hadzsiev, Kinga, et al.
Publicado: (2019)

Role of the ADCY9 gene in cardiac abnormalities of the Rubinstein-Taybi syndrome
por: Wu, Yueheng, et al.
Publicado: (2020)

The behavioral phenotype of Rubinstein–Taybi syndrome: A scoping review of the literature
por: Awan, Neelam, et al.
Publicado: (2022)

Behavioral and neuropsychiatric challenges across the lifespan in individuals with Rubinstein-Taybi syndrome
por: Qu’d, Dima, et al.
Publicado: (2023)

Hysterectomy due to Abnormal Uterine Bleeding in a 15-year Old Girl with Rubinstein-Taybi Syndrome
por: Lee, Kwang Ho, et al.
Publicado: (2016)

Perioperative management of a patient of Rubinstein-Taybi syndrome with ovarian cyst for laparotomy
por: Darlong, Vanlal, et al.
Publicado: (2014)

Multiple keloids in a 16-year-old boy with Rubinstein-Taybi syndrome
por: Bienias, Wojciech, et al.
Publicado: (2015)

Circumscribed Storiform Collagenoma Associated with Rubinstein-Taybi Syndrome in a Young Adolescent
por: Zavras, Nick, et al.
Publicado: (2016)

Insights into the Role of the Microbiota and of Short-Chain Fatty Acids in Rubinstein–Taybi Syndrome
por: Di Fede, Elisabetta, et al.
Publicado: (2021)

Anesthetic Management of an Asian Pediatric Patient With Rubinstein-Taybi Syndrome for Dental Surgery
por: Au Yong, Phui Sze, et al.
Publicado: (2020)

CBP-HSF2 structural and functional interplay in Rubinstein-Taybi neurodevelopmental disorder
por: de Thonel, Aurélie, et al.
Publicado: (2022)

A case of bilateral elbow dislocation in a patient with Rubinstein-Taybi syndrome
por: Kawano, Yusuke, et al.
Publicado: (2023)

General anesthetic management for dental surgery in an adult patient with Rubinstein-Taybi syndrome
por: Kotera, Atsushi
Publicado: (2023)

A Case Report of Rubinstein-Taybi Syndrome Presenting with Extensive Keloid Formation and Review of Literature
por: Kim, Jee-Woo, et al.
Publicado: (2023)

A case of Rubinstein-Taybi Syndrome with a CREB-binding protein gene mutation
por: Kim, Se Hee, et al.
Publicado: (2010)

Surgical treatment of scoliosis in Rubinstein-Taybi syndrome type 2: a case report
por: Bounakis, Nikolaos, et al.
Publicado: (2015)

LINC-16. MEDULLOBLASTOMA IN A BOY WITH RUBINSTEIN-TAYBI SYNDROME: A CASE REPORT
por: del Campo, Regina M Navarro-Martin, et al.
Publicado: (2020)

Clinical description and mutational profile of a Moroccan series of patients with Rubinstein Taybi syndrome
por: Elalaoui, Siham Chafai, et al.
Publicado: (2021)

A novel CREBBP mutation and its phenotype in a case of Rubinstein–Taybi syndrome
por: Wang, Qian, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_452fjis7ev0equo1r7llnskopl