Joubert and Meckel-Gruber syndromes Report

Joubert (JBTS) and Meckel-Gruber (MKS) syndromes are two recessive neurodevelopmental disorders characterized by high clinical and genetic variability. They belong to the large and heterogeneous group of ciliopathies, a set of syndromes in which congenital dysfunctions of the cellular ciliary apparatus interfere with the normal mechanisms of development, leading to systemic consequences.People with JBTS, a rare condition, have a typical combination of brain signs called "molar tooth sign", which includes 1) deep interpeduncular fossa 2) thick, elongated superior cerebellar peduncles and 3) cerebellar vermis hypoplasia. The main feature of JBTS, in fact, is an abnormal development of the posterior brain structures, including the cerebellum and the brainstem. Infants affected early present with hypotonia and ataxia (inability to coordinate movements), respiratory rhythm irregularities, ocular motor apraxia (abnormal eye movements), delayed intellectual development, typical facial feature