Abstract
Joubert syndrome (OMIM 213300) is an uncommon autosomal recessive disorder that is characterised by distinct mid-hindbrain abnormalities, hypotonia and developmental delay. The molar tooth sign is a distinctive radiological feature of Joubert Syndrome that is best seen on a magnetic resonance imaging (MRI) or axial computed tomography (CT) scan. Here, we present a case of Joubert syndrome with mutation of the TMEM67 gene associated with Blake's pouch cyst. Blake's pouch cyst is a rare finding that is considered a part of the Dandy–Walker spectrum. In more than 90% of the surviving neonates with Blake's pouch cyst diagnosed by ultrasound prenatally, there were no associated abnormalities and a normal developmental progress was assessed at 1–5 years. Rarely, however, trisomy 21, cardiac anomalies and Beckwith–Wiedemann syndrome have been found to be associated with Blake's pouch cyst.
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