Clinical and genetic characteristics of 36 children with Joubert syndrome
Frontiers in Pediatrics, 2023 Background and aimsJoubert syndrome (JBTS, OMIM # 213300) is a group of ciliopathies characterized by mid-hindbrain malformation, developmental delay, hypotonia, oculomotor apraxia, and breathing abnormalities.
Yan Dong +12 more
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Joubert syndrome: a case report
Bulletin of Faculty of Physical Therapy, 2021 Background Joubert syndrome (JS) is a rare autosomal recessive genetic heterogeneously inherited disorder characterized by neurological features that include hypotonia, ataxia, developmental delay, intellectual disability, abnormal eye movements, and ...
Sarfaraz Alam +2 more
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The \u27molar tooth sign\u27 in Joubert syndrome [PDF]
, 2009 The molar tooth sign is seen in very few conditions and is a very rare paediatric central nervous system congenital anomaly. Molar tooth sign is the result of cerebellar vermis hypoplasia, thick and maloriented superior cerebellar peduncles, and an ...
Rehman, Imaad ur +4 more
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MOLAR TOOTH SIGN - JOUBERT SYNDROME
Acta medica medianae, 2015 The molar tooth sign is seen in very few conditions and is a very rare pediatric central nervous system congenital anomaly. Molar tooth sign is the result of cerebellar vermis hypoplasia, thick and maloriented superior cerebellar peduncles, and an abnormally deep interpeduncular fossa. In Joubert syndrome, this is seen in about 85% of patients.
Dušica Ranđelović +2 more
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A Submerged Tooth Possibly Caused by Biting on a Tracheal Tube in Hospital Due to Cerebral Hemorrhage in Childhood [PDF]
, 2017 We report the case study of a 17-year-old boy with cerebral-hemorrhage sequelae including intellectual disability, who presented with a severe, submerged first deciduous molar in his mandibular alveolar bone. It was believed that his condition was caused
Kameoka Ryo +5 more
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Oral–Facial–Digital Syndrome type VI with self mutilations
Egyptian Journal of Medical Human Genetics, 2014 We report the case of a 2.5 year old female, 2nd in order of birth of 1st cousin consanguineous marriage, with the typical features of Oral–Facial–Digital Syndrome type VI (OFDS VI) including midline pseudo cleft upper lip, sublingual nodule, molar tooth
Rabah M. Shawky +4 more
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Joubert Syndrome with a Rare Finding of Pathological Mandibular Angle Fracture [PDF]
Journal of Krishna Institute of Medical Sciences University, 2021 Joubert Syndrome (JS) is a rare congenital condition first reported by French Neurologist Marie Joubert in 1969 which shows multi-organ manifestations including developmental, neurological, renal, hepatic, ocular and orofacial abnormalities.
Vathsala Patil +5 more
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Congenital Ocular Motor Apraxia without Joubert\u27s Syndrome: Overlooking the "Mini-Molar-Tooth" Sign and Subtle Hypoplasia of Inferior Vermis [PDF]
, 2011 Joubert\u27s syndrome and related disorders (JSRD) include several autosomal recessive \u27ciliopathies\u27, which are defined on axial MRI by the presence of the molar tooth sign (MTS), often with hypoplasia of cerebellar vermis.
Elena A. Sokolova; William A. Fletcher; Fiona Costello
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Varadi Papp syndrome, an unusual variant of oral-facial-digital syndrome: Report of a rare case
Annals of Indian Academy of Neurology, 2013 Varadi Papp syndrome or oral-facial-digital syndrome type VI (OFDS VI) is a rare autosomal-recessive disorder distinguished from other OFDSs by metacarpal abnormalities with central polydactyly and by cerebellar abnormalities.
Soumya Patra +3 more
doaj +1 more source
Posición del tercer molar mandibular y su proximidad con el conducto dentario inferior en radiografías panorámicas de pacientes que acuden a la consulta privada; Iquitos-2020 [PDF]
, 2021 Objetivos: Determinar la relación entre la posición del tercer molar mandibular y su proximidad con el conducto dentario inferior en radiografías panorámicas de pacientes que acuden a la consulta privada en la clínica radiológica SODGEN - Iquitos; 2017 ...
Silva Pezo, Ada Priscila +1 more
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