Joubert syndrome (OMIM 213 300) is a rare autosomal recessive disorder, whose locus is on chromosome 9q; it is characterized by ataxia, psychomotor retardation, ocular and respiratory abnormalities related to dysgenesis of cerebellar vermis and mesencephalon. It is currently included in the malformation spectrum of cerebello-oculorenal syndromes (CORS)1. An image known as a “molar tooth sign” i...

Joubert syndrome is a rare autosomal-recessive condition characterized by early hyperpnea and apnea, developmental delay, and truncal ataxia. We previously described key ocular motor signs in Joubert syndrome and the molar tooth sign resulting from dysplasia of the isthmic segment of the brain stem, superior cerebellar peduncles, and vermis. In this study, we obtained clinical and developmental...

Facial-Digital Syndrome Type VI Oral-facial-digital syndrome type VI (OFDS VI) or Váradi-Papp syndrome is a rare autosomal recessive disorder, distinguished from other type of OFDS by metacarpal abnormalities with central polydactyly; cerebellar abnormalities; and, sometimes, hypothalamic hamartomas. Affected patients present with hypotonia, cognitive impairment, irregular breathing, and oculom...

Joubert syndrome is a rare disorder characterized by hypotonia, ataxia, episodic hyperpnoea, psychomotor delay, abnormal ocular movements, and molar tooth sign on magnetic resonance imaging (MRI). This syndrome is inherited as an autosomal recessive trait, but the molecular basis and specific chromosomal locus have not yet been identified. MRI features are the most important diagnostic criteria...

introdouction: impacted mandibular third molar surgery may affect periodontal status of the adjacent second molar. the purpose of this study was to evaluate the changes in periodontal health parameters distal to the adjacent second molar following surgical extraction of an impacted mandibular third molar. materials and methods: we selected 50 subjects with a mean age of 22.8 (ranging from 18 to...

Joubert syndrome (JS) is a very rare, autosomal-recessive condition. It is characterized by agenesis of cerebellar vermis, abnormal eye movements with nystagmus, episodes of hyperpnea and apnea, delayed generalized motor development, retinal coloboma and dystrophy and, sometimes, multicystic kidney disease. The importance of recognizing JS is related to the outcome and its potential complicatio...