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  • Open Daily: 10am - 10pm
    Alley-side Pickup: 10am - 7pm

    3038 Hennepin Ave Minneapolis, MN
    612-822-4611

Open Daily: 10am - 10pm | Alley-side Pickup: 10am - 7pm
3038 Hennepin Ave Minneapolis, MN
612-822-4611
A Novel Dysmorphic Oculofacial Subtype of Joubert Syndrome

A Novel Dysmorphic Oculofacial Subtype of Joubert Syndrome

Al-Mosawi, Aamir

Paperback

Medical Reference

ISBN10: 6207996704
ISBN13: 9786207996704
Publisher: LAP Lambert Academic Publishing
Published: Jul 23 2025
Pages: 60
Weight: 0.21
Height: 0.14 Width: 6.00 Depth: 9.00
Language: English
Joubert syndrome is a rare autosomal recessive neurodevelopmental disorder characterized by cerebellar vermis hypoplasia and the distinctive molar tooth sign on brain imaging. This book presents the first documented case of Joubert syndrome in Iraq. The patient exhibited notable oculofacial dysmorphism including synophrys, epicanthal folds, strabismus, and frontal hair upsweep, but lacked systemic features typically associated with Joubert syndrome subtypes such as renal, hepatic, or limb anomalies. Treatment with cerebrolysin, piracetam, citicoline, and nandrolone decanoate resulted in measurable clinical improvement. This case may represent a previously unclassified Joubert syndrome variant with isolated oculofacial features and no organ involvement, expanding the phenotypic spectrum of Joubert syndrome.

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