The face of Joubert syndrome: a study of dysmorphology and anthropometry.

Abstract excerpt

Joubert syndrome (JS) is an autosomal recessive disorder characterized by cerebellar vermis hypoplasia, hypotonia, developmental delay, apnea/hypernea and ophthalmologic abnormalities. Since its description, most attention has focused on hindbrain malformations and the hallmark molar tooth sign (MTS) when visualized on axial magnetic resonance imaging (MRI). Few reports have described a characteristic clinical...

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