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 …

Joubert syndrome is a rare posterior fossa malformation presenting with cerebellar and
brainstem malfunction. Differential diagnosis should include other posterior fossa …

(Figure 1 and Figure 2) revealed hypoplastic vermis with a narrow cleft separating the
cerebellar hemispheres. The superior cerebellar peduncles were thickened and abnormally …

Joubert Syndrome is a rare autosomal recessive genetic disorder characterized by a
distinctive midbrain-hindbrain malformation that gives the appearance of “the molar tooth …

Discussion JSRD is an extremely heterogeneous ciliopathy. Well-known features include
the hypoplasia or aplasia of the cerebellar vermis and the molar tooth sign. The classic …

Joubert syndrome (JS) is a rare autosomal recessive disorder with key finding of cerebellar
vermis hypoplasia with a complex brainstem malformation that comprises the molar tooth …

Joubert syndrome (JS) is a very rare autosomal recessive disorder, involving agenesis or
dysgenesis of cerebellar vermis and brain stem. The neurological features of JS include …

Joubert syndrome and related disorders comprise a subgroup of ciliopathies defined by the
presence of the 'molar tooth sign', a midbrain-hindbrain malformation identifiable by …

Joubert syndrome is a rare autosomal recessive disorder characterized by ataxia,
developmental delay, and oculomotor and respiratory abnormalities in relation to cerebellar …

Joubert syndrome is a rare autosomal-recessive condition characterized by early hyperpnea
and apnea, developmental delay, and truncal ataxia. We previously described key ocular …