Cargando…

Rubinstein-Taybi syndrome: Clinical profile of 11 patients and review of literature

BACKGROUND: Rubinstein-Taybi syndrome (RSTS) is a rare congenital neurodevelopmental disorder, characterized by postnatal growth deficiency, typical dysmorphic features, broad thumbs and toes, and mental retardation. Very few cases are reported in literature from developing countries. Diagnosis is o...

Descripción completa

Detalles Bibliográficos
Autores principales:	Kumar, Suresh, Suthar, Renu, Panigrahi, Inusha, Marwaha, Ram K.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Medknow Publications & Media Pvt Ltd 2012
Materias:	Original Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3491287/ https://www.ncbi.nlm.nih.gov/pubmed/23162289 http://dx.doi.org/10.4103/0971-6866.100751

Ejemplares similares

Proteus syndrome: Clinical profile of six patients and review of literature
por: Angurana, Suresh Kumar, et al.
Publicado: (2013)

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

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

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

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

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

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

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

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

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

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)

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

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

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

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

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

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

Tricuspid atresia and pulmonary atresia in a child with Rubinstein-Taybi syndrome
por: Loomba, Rohit S, 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)

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

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)

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)

Diverse Profiles of Anxiety Related Disorders in Fragile X, Cornelia de Lange and Rubinstein–Taybi Syndromes
por: Crawford, Hayley, et al.
Publicado: (2017)

Pulmonary hypertension due to obstructive sleep apnea in a child with Rubinstein-Taybi syndrome
por: Choi, Hyung Soon, et al.
Publicado: (2012)

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)

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_fks08nufu1032jcfuidntoke91