نتایج جستجو برای: joubert syndrome
تعداد نتایج: 622071 فیلتر نتایج به سال:
Joubert syndrome is a rare autosomal recessive inherited disease associated with many signs and symptoms. (JS) was first discovered by Marie in 1969. Joubert’s presents as low muscle tone (hypotonia), have difficulty coordinating movements (ataxia), episodes of fast or slow breathing abnormal eye movement (ocular motor apraxia). Developmental delay intellectual disability generally accompany. A...
BACKGROUND Joubert syndrome (JBTS) is a predominantly autosomal recessive disorder characterised by a distinctive midhindbrain malformation, oculomotor apraxia, breathing abnormalities and developmental delay. JBTS is genetically heterogeneous, involving genes required for formation and function of non-motile cilia. Here we investigate the genetic basis of JBTS in 12 French-Canadian (FC) indivi...
Ciliary disorders share typical features, such as polydactyly, renal and biliary cystic dysplasia, and retinitis pigmentosa, which often overlap across diagnostic entities. We report on two siblings of consanguineous parents and two unrelated children, both of unrelated parents, with co-occurrence of Joubert syndrome and Jeune asphyxiating thoracic dystrophy, an association that adds to the obs...
BACKGROUND The nosological assignment of congenital ocular motor apraxia type Cogan (COMA) is still controversial. While regarded as a distinct entity by some authorities including the Online Mendelian Inheritance in Man catalog of genetic disorders, others consider COMA merely a clinical symptom. METHODS We performed a retrospective multicenter data collection study with re-evaluation of cli...
The so-called molar tooth sign is the radiologic hallmark of JSRD. Joubert syndrome is a rare, most often autosomal-recessive disorder with a characteristic malformation of the midhindbrain. We describe 3 patients with JSRD and the additional MR finding of tissue resembling heterotopia in the interpeduncular fossa, which in one patient was combined with a more extensive intramesencephalic heter...
Several syndromes have been recognized with digital abnormality and CNS involvement such as oculodentodigital dysplasia (ODDD), Mohr syndrome and Joubert syndrome. We report a patient who was referred to us because of the neurological signs suspicious of metabolic disorders. This case was a 22-year-old woman whose problems began 4 years ago with shortening of memory, ataxia, abnormal gait and d...
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