Sindrome di Joubert

التفاصيل البيبلوغرافية
العنوان: Sindrome di Joubert
المؤلفون: Fabrizio Ferrari, L Mavilla, Maria Federica Roversi, S. Piaggi, C Gallo, F. Tavani, D. Palmieri, Marisa Pugliese
المصدر: Rivista di Neuroradiologia. 16:515-517
بيانات النشر: SAGE Publications, 2003.
سنة النشر: 2003
مصطلحات موضوعية: Psychomotor learning, Pediatrics, medicine.medical_specialty, Cerebellum, Radiological and Ultrasound Technology, business.industry, Hyperpnea, medicine.disease, Hypoplasia, medicine.anatomical_structure, Cerebellar malformation, Agenesis, Cerebellar vermis, medicine, Radiology, Nuclear Medicine and imaging, Neurology (clinical), Oculomotor apraxia, business
الوصف: Joubert's sundrome is a rare cerebellar malformation belonging to the group of rhom-boencephaloschisis and characterised by varying degrees of hypoplasia of the cerebellar vermis or complete agenesis. We describe an infant referred to us at six months of age for oculomotor apraxia and delayed psychomotor development. We focus on the neuroradiological features essential to diagnosis of Joubert's syndrome. The absence of hyperpnea in the neonatal period and prematurity deemed responsible for initial episodes of central apneas, prevented early diagnosis.
تدمد: 1120-9976
DOI: 10.1177/197140090301600335
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::379e281a2f772090293a62905e370068
https://doi.org/10.1177/197140090301600335
Rights: CLOSED
رقم الانضمام: edsair.doi...........379e281a2f772090293a62905e370068
قاعدة البيانات: OpenAIRE
الوصف
تدمد:11209976
DOI:10.1177/197140090301600335