Endocrine Abstracts

Introduction: Joubert Syndrome (JS) is a rare ciliopathy condition, presenting distinctive cerebellar and brain stem malformation called the “molar tooth sign” (MTS) on brain imaging. Patients suffer from neonatal breathing dysregulation, developmental delay, hypotonia, abnormal eye movements. Endocrine disorders are only rarely evaluated, to date only few reports highlight the importance of hormonal evaluation.Material...