Joubert syndrome is a relatively rare autosomal recessive congenital disorder; it is characterized by cerebellar vermis hypoplasia or aplasia. Characteristic clinical symptoms and signs include motor and respiratory abnormalities. It is currently included in the malformation spectrum of cerebello-oculo-renal syndromes (CORS). An image known as a "molar tooth sign" is typically observed in cereb...

Abstract Joubert syndrome (JS) is a rare autosomal recessive disorder. All patients affected by this presented characteristic picture of cranial fossa malformations, called “molar tooth sign.” This sign defined the presence in axial section at level deck/midbrain, hypo/dysplasia cerebellar vermis, abnormally deep interpeduncular and horizontalized thickened elongated superior peduncles. Althoug...

A two-year-old boy, born of non-consanguineous marriage was brought with delayed motor and language milestones. The parents had also noted abnormal eye movements and periodic breathing difficulty since early infancy. The child was third of three sibs and the other two sibs were normal. On examination, the child was hypotonic and mentally retarded and had severe truncal ataxia and oculomotor apr...

primary tooth impaction is a rare finding during the development of primary dentition. several factors contribute to the impaction of a deciduous tooth. this report describes the diagnosis and treatment of a 10-year-old boy who presented an impacted second primary mandibular molar. this tooth, located inferior to the second premolar together with an odontoma, was positioned superior to the prem...

Address for Correspondence: Can Tekin İskender, Department of Gynecology and Obstetrics, Faculty of Medicine, Başkent University, Seyhan 01200 Adana, Turkey Phone: +90 322 233 32 15 e.mail: [email protected] ©Copyright 2011 by the Turkish-German Gynecological Education and Research Foundation Available online at www.jtgga.org doi:10.5152/jtgga.2011.75 Joubert syndrome (JBTS) is an autosomal ...

Jouberts syndrome is an uncommon autosomal recessive neurodevelopmental disorder involving cerebellar vermis and brain stem. We report a case of 5 year old male boy presented with global developmetal delay, abnormal eye moments and abnormal respiratory moments. On examination decreased muscle tone, nystagmus, and gait ataxia is present. Magnetic resonance imaging (MRI) revealed characteristic M...

BACKGROUND Association between Joubert Syndrome and Hirschsprung disease is rare. CASE CHARACTERISTICS A 9-month-old girl having developmental delay and chronic constipation. OBSERVATION Molar tooth sign on MRI brain and absence of ganglion cells in rectal biopsy specimen. OUTCOME Child underwent surgical repair for Hirschsprung disease. MESSAGE Association of these two rare entities co...

introduction:there are conflicting reports on the effects of surgical removal of impacted mandibular third molars on the periodontium of the adjacent teeth. the aim of this study was to compare the condition of the periodontium six months after extraction of impacted mandibular third molars with baseline values. methods: fifty patients with mesioangular impacted mandibular third molarsparticipa...

autogenous tooth transplantation (att) is a simple and reasonable choice for replacing the missing teeth when a proper donor tooth is available. this report presents a case of successful att of a maxillary right third molar for replacement of mandibular right second molar with a concomitant endodontic-periodontal disease. the mandibular second molar was believed to be hopeless due to a severe d...