Results 31 to 40 of about 6,310 (174)

Co-occurrence of mutations in KIF7 and KIAA0556 in Joubert syndrome with ocular coloboma, pituitary malformation and growth hormone deficiency: a case report and literature review

BMC Pediatrics, 2020
Background Joubert syndrome is a recessive neurodevelopmental disorder characterized by clinical and genetic heterogeneity. Clinical hallmarks include hypotonia, ataxia, facial dysmorphism, abnormal eye movement, irregular breathing pattern cognitive ...
Marcello Niceta, Maria Lisa Dentici, Andrea Ciolfi, Romana Marini, Sabina Barresi, Francesca Romana Lepri, Antonio Novelli, Enrico Bertini, Marco Cappa, Maria Cristina Digilio, Bruno Dallapiccola, Marco Tartaglia   +11 more
doaj   +1 more source

Molar tooth sign − looking beyond the obvious

South African Journal of Radiology, 2013
The molar tooth sign was initially identified in Joubert syndrome, named after Marie Joubert who first described it in 1968 as a rare autosomal recessive disorder characterised by the neuroradiological hallmark of the molar tooth sign caused by ...
Nasreen Mahomed, Sanjay P. Prabhu
doaj   +1 more source

Joubert syndrome: A classic case

Journal of Family Medicine and Primary Care, 2019
Joubert syndrome is a rare autosomal recessive disorder characterized by hyperpnoea and eye movements, hypotonia, ataxia, developmental retardation with neuropathologic abnormalities of cerebellum and brainstem including inherited hypoplasia or aplasia ...
Puneeth Kumar, Amit Dey, Kartik Mittal, Rajaram Sharma, Anmol Goyal, Priya Hira   +5 more
doaj   +1 more source

Sleep, Respiration and Nocturnal Paroxysmal Events in Joubert Syndrome: A Case Report

Nature and Science of Sleep, 2022
Rosa Peraita-Adrados Sleep and Epilepsy Unit- Clinical Neurophysiology Service, University General Hospital and Research Institute Gregorio Marañón, University Complutense of Madrid (UCM), Madrid, SpainCorrespondence: Rosa Peraita-Adrados, Email rosa ...
Peraita-Adrados R
doaj  

Case series: Joubert syndrome and eosinophilic esophagitis

JPGN Reports, EarlyView.
Abstract Joubert syndrome (JS) is a rare genetic disorder characterized by developmental abnormalities, particularly in the brainstem and cerebellar vermis, alongside multisystem manifestations such as kidney and liver anomalies, polydactyly, cleft lip or palate, and tongue defects.
Jonathon Schening, Stephanie Leon‐Paredes, Eric Chiou, Vibha Szafron, Anthony Olive, Sara Anvari   +5 more
wiley   +1 more source

Feeding Management of African Rhinos (Ceratotherium simum, Diceros bicornis) in European Zoos

Zoo Biology, EarlyView.
The average estimated diets (in % dry matter) of white rhinos (C. simum) and black rhinos (D. bicornis) in European zoos differ in the proportion of (pelleted) compound feed and other non‐forage items. The reason for this difference is elusive but possibly related to creating more complicated diets for browsers. ABSTRACT White rhinos (WR, Ceratotherium
Gila Sauspeter, Marcus Clauss, Sylvia Ortmann, Andrew J. Abraham, Rebecca Biddle, Lars Versteege, Marcin Przybyło   +6 more
wiley   +1 more source

Long‐Term Efficacy and Safety of Ligelizumab as Re‐Treatment in Patients With Chronic Spontaneous Urticaria

Allergy, EarlyView.
Ligelizumab re‐treatment in CSU patients showed sustained efficacy and tolerability. Over 50% achieved symptom control (UAS7 ≤ 6) by Week 12; benefits maintained through Week 52. No new safety signals observed; aligns with prior PEARL trial outcomes. CSU, chronic spontaneous urticaria; mg, milligram; q4w, every 4 weeks; UAS, urticaria activity score ...
Ana M. Gimenez‐Arnau, Marcus Maurer, Adam Reich, Chia‐Yu Chu, Diana Deleanu, Gordon Sussman, Jorge Sanchez, Knut Brockow, Koremasa Hayama, Michihiro Hide, Mohamed Denguezli, Raisa Meshkova, Roberta F. J. Criado, Sarbjit Saini, Solange Valle, Eva Hua, Pengpeng Wang, Alis Burciu, Isabelle Indermuehle, Vineeth Varanasi, Yolandi Joubert, Thomas Severin, Manmath Patekar   +22 more
wiley   +1 more source

Joubert Syndrome with a Rare Finding of Pathological Mandibular Angle Fracture [PDF]

Journal of Krishna Institute of Medical Sciences University, 2021
Joubert Syndrome (JS) is a rare congenital condition first reported by French Neurologist Marie Joubert in 1969 which shows multi-organ manifestations including developmental, neurological, renal, hepatic, ocular and orofacial abnormalities.
Vathsala Patil , Shruthi Acharya , Chandni Proothi , Pratichi Tripathi , Aditi Tamrakar, Ravindranath Vineetha   +5 more
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Parental counselling and autopsy results: A retrospective diagnostic cohort study at a multidisciplinary fetal neurology clinic

Developmental Medicine &Child Neurology, EarlyView.
Plain language summary: https://onlinelibrary.wiley.com/doi/10.1111/dmcn.70022 Abstract Aim To examine the accuracy of prenatal counselling at a multidisciplinary fetal neurology clinic (FNC) that led to termination of pregnancy (TOP), to improve the quality of future consultations. Method This retrospective diagnostic cohort study compared the imaging
Avi Shariv, Michal Gafner, Zvi Leibovitz, Letizia Schreiber, Dvora Kidron, Ayala Arad, Efrat Hadi, Stephanie Libzon, Liat Ben Sira, Maya Goldschmidt Manor, Dorit Lev, Tally Lerman‐Sagie, Liat Gindes   +12 more
wiley   +1 more source

Joubert Plus syndrome in a child with Dandy-Walker malformation and occipital cephalocele: A case report

Radiology Case Reports
Joubert syndrome is a rare congenital cerebral developmental malformation that primarily affects the cerebellum. It is characterized by the absence or underdevelopment of the cerebellar vermis and a malformed brain stem (molar tooth sign) on a transverse
Tsega Hagos Mehari, MD, Bemnet Mengesha Tessema, MD, Redaie Girmay Gebrekidan, MD   +2 more
doaj   +1 more source