Results 11 to 20 of about 5,733 (168)

Sonographic ‘molar tooth’ sign in the diagnosis of Joubert syndrome [PDF]

open access: bronzeUltrasound in Obstetrics & Gynecology, 2011
AbstractThe characteristic imaging finding common to Joubert syndrome and related disorders is the ‘molar tooth’ sign. The prenatal diagnosis of Joubert syndrome using both ultrasound and fetal magnetic resonance imaging (MRI) in families with an affected child has been reported previously.
D, Pugash   +6 more
openaire   +4 more sources

Molar tooth sign: Joubert’s syndrome [PDF]

open access: bronzeJournal of Clinical Images and Medical Case Reports, 2022
A 5 year old female child from a well-monitored, full term pregnancy with no specific history of ataxia, hypotonia and global developmental delay.
Hajar Zebbakh
openaire   +2 more sources

‘Molar tooth’ sign in Joubert syndrome [PDF]

open access: bronzePediatric Radiology, 2009
An 11-month-old girl born to nonconsanguineous parents presented with abnormal eye movements and frequent upper respiratory infections. The immediate postnatal period had been marked by respiratory distress that subsided with supportive measures. When seen she had global developmental delay, nystagmus, and limb hypotonia.
Debkrishna, Mallick, Rajoo, Thapa
openaire   +4 more sources

Mid-brain molar tooth sign: expanding the clinical spectrum [PDF]

open access: bronzeJournal of Neurology, Neurosurgery & Psychiatry, 2007
A 17-year-old male, a single child of non-consanguineous parentage, presented with non-progressive gait ataxia, which he had had since childhood. He had suffered mild perinatal hypoxic injury, not requiring prolonged intensive care. Motor milestones were acquired late; he walked independently only from the age of three and swayed while walking. Despite
J N, Panicker, B, Jyothi, K P, Sreekumar
openaire   +4 more sources

Joubert Plus syndrome in a child with Dandy-Walker malformation and occipital cephalocele: A case report [PDF]

open access: yesRadiology Case Reports
Joubert syndrome is a rare congenital cerebral developmental malformation that primarily affects the cerebellum. It is characterized by the absence or underdevelopment of the cerebellar vermis and a malformed brain stem (molar tooth sign) on a transverse
Tsega Hagos Mehari, MD   +2 more
doaj   +2 more sources

Joubert Syndrome: A Rare Case of Two Sudanese Sisters With Neurodevelopmental Delays and Diagnostic Challenges [PDF]

open access: yesClinical Case Reports
Joubert Syndrome's rarity and diagnostic complexity, especially in Sudan, pose significant challenges in low‐resource settings. Sibling cases with neurodevelopmental delays and MRI‐confirmed molar tooth sign highlight the urgent need for heightened ...
Ahmed Alshafei Elmahi Ahmed   +10 more
doaj   +2 more sources

MOLAR TOOTH SIGN - JOUBERT SYNDROME

open access: diamondActa 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
openaire   +2 more sources

Chronic vomiting revealing Joubert syndrome: A case report [PDF]

open access: yesRadiology Case Reports
Joubert syndrome is a rare autosomal recessive disorder characterized by the presence of the molar tooth sign on imaging. We report the case of a 5-year-old girl diagnosed with Joubert syndrome during the investigation of chronic vomiting.
Leila Haddar   +7 more
doaj   +2 more sources

MOLAR TOOTH SIGN [PDF]

open access: diamondPediatric Oncall, 2020
Rajani H S, Narayanappa D
openaire   +2 more sources

"Molar Tooth" Sign Pathognomonic of Joubert Syndrome

open access: diamondScholars Journal of Medical Case Reports
Joubert syndrome is a rare autosomal disorder characterised by abnormal respiratory patterns, delayed psychomotor development, visual disturbances and renal and hepatic involvement. We report the case of a 7-year-old girl who presented with delayed psychomotor development. Neurological examination revealed hypotonia.
Aloumba-Gilius Donald Wilhem   +6 more
openaire   +2 more sources

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