Cargando…

Rubinstein–Taybi syndrome with agenesis of corpus callosum

Rubinstein–Taybi syndrome (RSTS) is a rare genetic disorder with characteristic morphological anomaly. Our patient was a 4.5-year-old girl came with features like broad thumbs, downward slanting palpebral fissures and mental retardation. Systemic abnormalities such as repeated infection, seizure wit...

Descripción completa

Detalles Bibliográficos
Autores principales:	Mishra, Shubhankar, Agarwalla, Sunil Kumar, Potpalle, Dnyaneshwar Ramesh, Dash, Nishant Nilotpal
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Medknow Publications & Media Pvt Ltd 2015
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4489069/ https://www.ncbi.nlm.nih.gov/pubmed/26167229 http://dx.doi.org/10.4103/1817-1745.159207

Ejemplares similares

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)

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

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

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

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

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

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

Agenesis of the corpus callosum
por: Singh, Sangram, et al.
Publicado: (2010)

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

Anesthetic Management in Corpus Callosum Agenesis
por: Kılıç, Ebru Tarıkçı, et al.
Publicado: (2018)

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

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

Complete Corpus Callosum Agenesis: Can It Be Mild?
por: Chiappedi, Matteo, et al.
Publicado: (2012)

Alternate Seizure Spread with Agenesis of the Corpus Callosum
por: Velagapudi, Lohit, et al.
Publicado: (2021)

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)

Bart’s Syndrome Associated Corpus Callosum Agenesis and Choanal Atresia
por: SAEED, Muhammad, et al.
Publicado: (2014)

Moebius syndrome with Dandy-Walker variant and agenesis of corpus callosum
por: John, Jomol Sara, et al.
Publicado: (2013)

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

Corpus callosum agenesis and rehabilitative treatment
por: Chiappedi, Matteo, et al.
Publicado: (2010)

Alexithymia and somatization in agenesis of the corpus callosum
por: Paul, Lynn K, et al.
Publicado: (2021)

Genetic heterogeneity in corpus callosum agenesis
por: Pânzaru, Monica-Cristina, et al.
Publicado: (2022)

Agenesis of the Corpus Callosum in a Newborn with Turner Mosaicism
por: Pereira, Ester, et al.
Publicado: (2014)

Agenesis of the corpus callosum: a rare association with Ehlers-Danlos syndrome
por: AFRAKHTEH, Motahareh, et al.
Publicado: (2020)

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

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

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

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

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

Facial emotion recognition in agenesis of the corpus callosum
por: Bridgman, Matthew W, et al.
Publicado: (2014)

Agenesis of the Corpus Callosum in a Patient With Schizophrenia
por: Rosewater, Jacob B, et al.
Publicado: (2021)

Birth to preschool evolution of agenesis of corpus callosum
por: Chatterjee, Rajib, et al.
Publicado: (2020)

Proud Syndrome: A Rare Cause of Corpus Callosum Agenesis
por: Devi, Risha, et al.
Publicado: (2023)

The combination of thermal dysregulation and agenesis of corpus callosum: Shapiro's or/and reverse Shapiro's syndrome
por: Topcu, Yasemin, et al.
Publicado: (2013)

Neuropsychiatric manifestations in a child with agenesis of the corpus callosum
por: Mohapatra, Satyakam, et al.
Publicado: (2015)

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

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

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

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

Cannot write session to /tmp/vufind_sessions/sess_3v4mr3pi0jhqcfuavlgi8res02