Joubert syndrome is a group of rare disorders that stem from defects in a sensory organelle,
the primary cilia. Affected patients often present with disorders involving multiple organ …

Joubert syndrome is a rare autosomal recessive disorder. It is characterized by congenital
ataxia, hypotonia, developmental delay and at least one of the following features: neonatal …

Joubert syndrome and related disorders (JSRD) are rare and intractable diseases
characterized by delayed psychomotor development, hypotonia and/or ataxia, and abnormal …

Purpose: To provide 2-dimensional ultrasonographic (2D-US) normograms of cerebellar
vermis biometry, as well as to evaluate the feasibility and the reproducibility of these …

Joubert syndrome (JBTS) is a rare autosomal recessive or X-linked congenital brain
malformation with strong genetic heterogeneity. Other neurological features of JBTS include …

Joubert syndrome (JS) is a rare inherited disorder of central nervous system with
neonatal/infantile onset, mainly affecting cerebellum and brainstem, and clinically …

Joubert syndrome is a rare autosomal recessive disorder that may have different clinical
presentation such as ataxia, hyperpnea, sleep apnea, nystagmus, hypotonia, seizure and …

AIM To test a new parameter to assess the position of the fetal cerebellar vermis in the
posterior fossa (PF) using intrauterine magnetic resonance imaging (MRI). MATERIALS …

DISCUSSION Described first by Marie Joubert in 1969, JS is a rare autosomal-recessive
condition with a reported incidence of 1 in 80,000–100,000 live births.[1, 2] It is …

ジュベール症候群関連疾患を有し精神運動発達遅滞を呈した1歳児においてホームエクササイズが
発達を促進する一助となった1症例 Toggle navigation J-STAGE home 資料・記事を探す 資料を …