A Novel Dysmorphic Oculofacial Subtype of Joubert Syndrome

ISBN-13: 9786207996704 / Angielski / Miękka / 2025 / 60 str.

Aamir Al-Mosawi

Opis

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.