Cargando…

A Case of Joubert Syndrome with Chronic Kidney Disease

Joubert syndrome is a genetically heterogeneous disorder that belongs to the group of cerebello-oculo-renal syndromes. It is characterised by neurodevelopmental abnormalities and complex midbrain-hindbrain malformation, visible on brain imaging as a molar tooth sign. It is classified as a ciliopathy...

Descripción completa

Detalles Bibliográficos
Autores principales:	Shamsudheen, M. P., Das, Uttara, Taduri, Gangadhar, Guditi, Swarnalatha, Karthik, Raja, Thakur, Rajani
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Wolters Kluwer - Medknow 2021
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8101675/ https://www.ncbi.nlm.nih.gov/pubmed/33994691 http://dx.doi.org/10.4103/ijn.IJN_287_19

Ejemplares similares

Revisiting renal amyloidosis with clinicopathological characteristics, grading, and scoring: A single-institutional experience
por: Kalle, Abhiram, et al.
Publicado: (2018)

An unusual case of gastrointestinal mucormycosis in a patient with nephrotic syndrome
por: Sriperumbuduri, S., et al.
Publicado: (2017)

N-acetyl cysteine versus allopurinol in the prevention of contrast nephropathy in patients with chronic kidney disease: A randomized controlled trial
por: Sadineni, R., et al.
Publicado: (2017)

Isolated Vascular Lesions (IVL) in Early Allograft Biopsies: A Case Series
por: Bangaru, Vennela, et al.
Publicado: (2019)

Joubert syndrome: A classic case
por: Kumar, Puneeth, et al.
Publicado: (2019)

Chronic Kidney Disease of Unknown Etiology: Case Definition for India – A Perspective
por: Anupama, Y. J., et al.
Publicado: (2020)

An infant with Joubert syndrome: A case report
por: Tabassum, Shehroze, et al.
Publicado: (2022)

Joubert Syndrome: The Molar Tooth Sign of the Mid-Brain
por: Nag, C, et al.
Publicado: (2013)

Strongyloid Hyperinfection Syndrome in a Renal Transplant Recipient
por: Sriperumbuduri, S., et al.
Publicado: (2017)

Joubert Syndrome: Imaging Features and Illustration of a Case
por: Arora, Richa
Publicado: (2014)

Joubert Syndrome with Variable Features: Presentation of Two Cases
por: BARZEGAR, Mohammad, et al.
Publicado: (2013)

Joubert Syndrome with Orofacial Digital Features
por: Bhardwaj, Parveen, et al.
Publicado: (2018)

Joubert-Plus syndrome with an atretic cephalocele: a case report
por: Al-Smair, Ali, et al.
Publicado: (2022)

Adult-onset bulbar ptosis in Joubert syndrome
por: Burt, Benjamin, et al.
Publicado: (2012)

Joubert syndrome labeled as hypotonic cerebral palsy
por: Dekair, Lubna H., et al.
Publicado: (2014)

Physiotherapy and Rehabilitation in a Child with Joubert Syndrome
por: İpek, Özge, et al.
Publicado: (2017)

Dental Management of a Child with Joubert Syndrome
por: RAFATJOU, Rezvan, et al.
Publicado: (2022)

Joubert Syndrome in Three Children in A Family: A Case Series
por: Akhondian, Javad, et al.
Publicado: (2013)

Joubert Syndrome Presenting With Normal Pyramidal Decussation: A Case Report
por: Kim, Nam-Sik, et al.
Publicado: (2017)

A neonate with Joubert syndrome presenting with symptoms of Horner syndrome
por: Lee, Narae, et al.
Publicado: (2016)

A report of Joubert syndrome in an infant, with literature review
por: Singh, Paramdeep, et al.
Publicado: (2011)

Joubert Syndrome Presenting with Motor Delay and Oculomotor Apraxia
por: Gill, Harjinder, et al.
Publicado: (2011)

Orocraniofacial findings of a Pediatric Patient with Joubert Syndrome
por: Goswami, Mridula, et al.
Publicado: (2016)

Hassab’s operation for Joubert syndrome with congenital hepatic fibrosis: A case report
por: Miyazawa, Koji, et al.
Publicado: (2017)

A case report of Joubert syndrome with renal involvement and seizures in a neonate
por: Ahmetgjekaj, Ilir, et al.
Publicado: (2021)

Sleep, Respiration and Nocturnal Paroxysmal Events in Joubert Syndrome: A Case Report
por: Peraita-Adrados, Rosa
Publicado: (2022)

Joubert syndrome a rare entity and role of radiology: A case report
por: Ullah, Irfan, et al.
Publicado: (2022)

Joubert syndrome diagnosed renally late
por: Collard, Elizabeth, et al.
Publicado: (2020)

Joubert syndrome with autism in two siblings: A rare presentation
por: Raghavan, D. Vijaya, et al.
Publicado: (2016)

Missense variants in TMEM67 in a patient with Joubert syndrome
por: Huynh, Julie M., et al.
Publicado: (2018)

Nitrofurantoin induced interstitial lung disease
por: Naidu, G. D., et al.
Publicado: (2014)

Joubert syndrome; misleading presentation of two cases as pseudo-tumor cerebri and literature review
por: Seylanian Toosi, Farrokh, et al.
Publicado: (2016)

Good outcome of tracheostomy in a COVID‐19 child with Joubert syndrome—Case report
por: Epure, Veronica, et al.
Publicado: (2023)

Novel variants identified in five Chinese families with Joubert Syndrome: a case report
por: Fang, Liwei, et al.
Publicado: (2023)

Ocular findings in two siblings with Joubert syndrome
por: Makino, Shinji, et al.
Publicado: (2014)

Joubert Syndrome with a Rare Ocular Phenotype: Coloboma with Retrobulbar Cysts − A Case Report
por: Chettiankandi, Salam, et al.
Publicado: (2022)

A Rare Case of Transplanted Kidney Lymphangiectasia in a Patient With Joubert Syndrome
por: Hussein, Mohamed Lameir Mukhtar, et al.
Publicado: (2023)

Diabetic nephropathy: the role of inflammation in fibroblast activation and kidney fibrosis
por: Kanasaki, Keizo, et al.
Publicado: (2013)

Combating Kidney Fibrosis
por: Kanasaki, Keizo, et al.
Publicado: (2014)

Joubert Syndrome and related disorders
por: Brancati, Francesco, et al.
Publicado: (2010)

Cannot write session to /tmp/vufind_sessions/sess_mqph1p0k30qe0126f7us6ad2d6