| Autor: |
Muzammil Hafeez, Mahmoud Ahmed Galal, Anwar Khan, Gururaj Aithala Kodavooru, Hussein Z Adamjee Burhani, Yaser Husain Morsy El Saba, Rashid Mustafa, Manal Zaki Younis |
| Jazyk: |
angličtina |
| Rok vydání: |
2020 |
| Předmět: |
|
| Zdroj: |
Hamdan Medical Journal, Vol 13, Iss 4, Pp 235-238 (2020) |
| ISSN: |
2227-2437 |
| Popis: |
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. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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