Cargando…

Joubert Syndrome: A Rare Radiological Case

Joubert syndrome is a rare autosomal recessive neurodevelopmental disease characterized by abnormal breathing patterns composed of episodic tachypnea/apnea, hypotonia, ataxia, developmental delay, intellectual impairment, ocular impairment, renal cysts, and hepatic fibrosis. We report the case of a...

Descripción completa

Detalles Bibliográficos
Autores principales:	Akhtar, Ali, Hassan, Syed Adeel, Falah, Noor Ul, Khan, Maham, Sheikh, Fahad N
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Cureus 2019
Materias:	Radiology
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6970099/ https://www.ncbi.nlm.nih.gov/pubmed/31988813 http://dx.doi.org/10.7759/cureus.6410

Ejemplares similares

An Unusual Case of Klebsiella pneumoniae Endocarditis
por: Hassan, Syed Adeel, et al.
Publicado: (2020)

Malignant Thyroid-type Papillary Neoplasm in Struma Ovarii: A Case Report
por: Hassan, Syed Adeel, et al.
Publicado: (2019)

A Case of Subclavian Artery Thrombosis
por: Hassan, Syed Adeel, et al.
Publicado: (2020)

Frightening" Resistant Clostridial Myonecrosis: A Case Report
por: Hassan, Syed Adeel, et al.
Publicado: (2019)

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

Successful Management of Coronary In-Stent Restenosis: A Case Report and Literature Review
por: Hassan, Syed Adeel, et al.
Publicado: (2020)

Nevoid Basal Cell Carcinoma Syndrome - Clinical and Radiological Findings of Three Cases
por: Ali, Ibrahim K, et al.
Publicado: (2016)

A Rare Case of Paroxysmal Nocturnal Hemoglobinuria With Bilateral Renal Vein Thrombosis
por: Lodhi, Omair ul haq, et al.
Publicado: (2020)

Factors Influencing the Choice of Radiology Subspecialty Among Radiology Trainees in Saudi Arabia
por: Alturki, Sultan T, et al.
Publicado: (2019)

Traumatic Splenic Infarction and Pulmonary Embolism: A Case Report of Rare Radiological Finding
por: Sinha, Mithilesh K, et al.
Publicado: (2021)

Left Paraduodenal Hernia: Case Report of Rare Cause of Recurrent Abdominal Pain
por: Kadhem, Sara, et al.
Publicado: (2020)

Joubert syndrome: Clinical and radiological characteristics of nine patients
por: Elhassanien, Ahmed Farag, et al.
Publicado: (2013)

Radiological and Embryological Relevance of Persistent Sciatic Arteries: A Rare Presentation
por: Taranikanti, Varna, et al.
Publicado: (2021)

The Role of Radiological Imaging in the Diagnosis and Treatment of Urolithiasis: A Narrative Review
por: Al-Shawi, Moneera M, et al.
Publicado: (2022)

Heavily Ossified Soft Tissue Chondroma of Plantar Foot and the Significance of Radiological Imaging: A Case Report
por: Vohra, Rimsha R, et al.
Publicado: (2023)

Rare Case of Multiple Intradural Extramedullary Spinal Schwannomas With Intramedullary Extension
por: Ahmed, Gasim, et al.
Publicado: (2021)

Radiological Evaluation of a Rare Case of Rib Caries and Cold Abscess in a Young Male Patient With Miliary Tuberculosis: A Case Report With Review of Literature
por: Ghanta, Prasanthi R, et al.
Publicado: (2023)

Currarino Syndrome Presenting in Adulthood: A Rare Case
por: Verma, Abhijit, et al.
Publicado: (2023)

Mirizzi Syndrome With Bouveret Syndrome: A Rare Amalgam
por: Varshney, Vaibhav K, et al.
Publicado: (2022)

Successful Interventional Radiology for Acute Median Arcuate Ligament Syndrome After Pancreaticoduodenectomy
por: Hanaki, Takehiko, et al.
Publicado: (2021)

Factors Influencing the Choice of Radiology Subspecialty Among Radiology Trainees in Sudan
por: Abdelrahman, Salma, et al.
Publicado: (2022)

Limy Bile Syndrome: A Report of a Rare Case
por: Rahate, Nachiket P, et al.
Publicado: (2022)

Herlyn-Werner-Wunderlich Syndrome: A Rare Case Report
por: Habbash, Zainab E
Publicado: (2023)

A Rare Presentation of a True Intra-articular Lipoma: A Case Report and Review of Imaging Findings
por: Shafqat, Areez, et al.
Publicado: (2022)

Radiological and Clinical Findings of Non-bifurcating Carotid Artery With Aberrant Course: A Case Report and Review of the Literature
por: Khan, Anas U, et al.
Publicado: (2022)

Grand Challenges in Radiology
por: Shen, Dinggang
Publicado: (2021)

Hemoptysis with a classical radiological sign
por: Gulati, Sameer, et al.
Publicado: (2011)

Signs of Nature in Spine Radiology
por: Baig, MN, et al.
Publicado: (2018)

Grand Challenges in AI in Radiology
por: Liu, Tianming
Publicado: (2021)

A Rare Case of Recurrent Pneumonia in Heterotaxy Syndrome, Polysplenia/Left Isomerism
por: Anwar, Ayesha, et al.
Publicado: (2021)

Let It Chill: The Role of Interventional Radiology in Complicated Appendicitis. A Case Report
por: Vázquez Mézquita, Aldo Javier, et al.
Publicado: (2019)

Clinical and Radiological Improvement Following Ozone Disc Nucleolysis: A Case Report
por: Ghatge, Sharad, et al.
Publicado: (2017)

A Case of Advanced Bilateral Inflammatory Breast Cancer: A Radiological Perspective
por: Salmanzadeh, Ryan, et al.
Publicado: (2023)

Patient-Based Dose Audit for Common Radiographic Examinations With Digital Radiology Systems: A Retrospective Cross-Sectional Study
por: Alshamrani, Khalid M, et al.
Publicado: (2021)

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

A Review of Radiological Investigations in Cases of Acute Appendicitis in a Tertiary Care Hospital
por: Hubail, Dalal R
Publicado: (2023)

Vasitis Nodosa: A Rare Diagnosis for Inguinal Swelling
por: Sultan, Anum, et al.
Publicado: (2021)

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

A Rare Case of Bilateral Orbital Metastases From Rectal Adenocarcinoma
por: Khan, Quratulain, et al.
Publicado: (2022)

Radiological Features of Giant Cell Tumours of Bone
por: Howard, Emma L, et al.
Publicado: (2020)

Cannot write session to /tmp/vufind_sessions/sess_ebjhkvc71236130pd44fctsrli