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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…mehr

Produktbeschreibung
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.
Autorenporträt
Aamir Jalal Al-Mosawi es médico asesor en el Centro Nacional de Capacitación y Desarrollo del Ministerio de Salud iraquí y en la Ciudad Médica de Bagdad. Fue Jefe de la sede en Irak del Panel Internacional de Científicos de Copernicus (2006-octubre de 2020). También es miembro del consejo asesor de la Asociación Internacional de Facultades de Medicina (IAMC).