نتایج جستجو برای: joubert syndrome
تعداد نتایج: 622071 فیلتر نتایج به سال:
Joubert syndrome (JS) is a rare autosomal recessive disorder with cerebellar vermis hypoplasia and complex brainstem malformation. The diagnosis of cases can be difficult as the presentation can be similar to cases of cerebral palsy. We present a case of JS in an 18-month-old girl who presented to pediatric rehabilitation with a diagnosis of hypotonic cerebral palsy and abnormal eye movements. ...
Abstract Joubert syndrome (JS) is a rare autosomal recessive disorder. All patients affected by this presented characteristic picture of cranial fossa malformations, called “molar tooth sign.” This sign defined the presence in axial section at level deck/midbrain, hypo/dysplasia cerebellar vermis, abnormally deep interpeduncular and horizontalized thickened elongated superior peduncles. Althoug...
A 7-year-old boy presented with cerebellar ataxia with reduced tonicity, deficits of the fine and gross motor coordination skills and vestibular stimulus processing, as well as significantly delayed language development. MR imaging showed the so-called “molar tooth sign”, which was highly pathognomonic for the Joubert-Syndrome—an inherited cerebellar ataxia with a variety of clinical symptoms—a...
Joubert syndrome (JS) is a recessive neurodevelopmental disorder characterized by a distinctive mid-hindbrain malformation. JS is part of a group of disorders called ciliopathies based on their overlapping phenotypes and common underlying pathophysiology linked to primary cilium dysfunction. Biallelic mutations in one of 28 genes, all encoding proteins localizing to the primary cilium or basal ...
The article describes the development of a child with Joubert Syndrome who, since the age of 16 months, has received personalized stimulation therapy at home and in the Early Intervention Unit (EIU) of the Faculty, in each of the five areas considered by the Portage Guide to Early Education: socialization, language, self-help, cognition, and motoricity. Repeated evaluations during the treatment...
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