Results 141 to 150 of about 6,129 (165)

Clinical Syndromes or Ciliopathies Associated With Molar Tooth Sign [PDF]

Pediatric Neurology, 2014
Dirik, Eray, Dirik, Mehmet Alp, YİŞ, ULUÇ   +2 more
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Joubert syndrome with the decaying molar tooth sign: report of 2 cases

Acta Neurologica Belgica
Diogo Goulart Correa, Felipe Torres Pacheco, Antonio JOSÉ Da Rocha   +2 more
exaly   +3 more sources

Another case of Varadi-Papp Syndrome with a molar tooth sign

American Journal of Medical Genetics, Part A, 2005
Martin H Reed
exaly   +2 more sources

Early Second-Trimester Molar Tooth Sign

Fetal Diagnosis and Therapy, 2014
Molar tooth sign (MTS) is pathognomonic for Joubert syndrome (JS) and related disorders. We report a case in which MTS was suspected in an ‘at risk' patient at 16 weeks' gestation by sonography and at 18 weeks by additional ultrasound. It was then confirmed at 20 weeks by MRI.
Ori, Shen, Liat, Ben-Sira, Daniel, Rosenak, Rachel, Michaelson-Cohen   +3 more
openaire   +2 more sources

Molar tooth sign: Joubert’s syndrome

Journal 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.
openaire   +1 more source

A 15-Year-Old Boy With Snoring and Molar Tooth Sign

Chest, 2015
A 15-year-old boy presented for evaluation of snoring and sleep-disordered breathing. The parents noted that the patient snored every night and that he had episodes when he stopped breathing, ending with gasping for air. He had no history of sleep walking, night terrors, tongue biting, or seizures.
Karim, El-Kersh, Egambaram, Senthilvel
openaire   +2 more sources

The molar tooth sign

Neurology, 2008
Joubert syndrome and related cerebellar disorders (JSRD) are a group of recessive congenital ataxia conditions usually showing neonatal hypotonia, dysregulated breathing rhythms, oculomotor apraxia, and mental retardation. The pathognomonic finding in JSRD is the unique molar tooth sign (MTS) on brain imaging.
M S, Zaki, A, Abdel-Aleem, G, Abdel-Salam, S E, Marsh, J L, Silhavy, A J, Barkovich, M E, Ross, S N, Saleem, W B, Dobyns, J G, Gleeson   +9 more
openaire   +2 more sources

Molar Tooth Sign in Joubert Syndrome: Clinical, Radiologic, and Pathologic Significance

Journal of Child Neurology, 1999
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.
B L, Maria, R G, Quisling, L C, Rosainz, A T, Yachnis, J, Gitten, D, Dede, E, Fennell   +6 more
openaire   +2 more sources

Molar tooth sign of the midbrain–hindbrain junction: Occurrence in multiple distinct syndromes

American Journal of Medical Genetics Part A, 2003
AbstractThe Molar Tooth Sign (MTS) is defined by an abnormally deep interpeduncular fossa; elongated, thick, and mal‐oriented superior cerebellar peduncles; and absent or hypoplastic cerebellar vermis that together give the appearance of a “molar tooth” on axial brain MRI through the junction of the midbrain and hindbrain (isthmus region). It was first
Joseph G, Gleeson, Lesley C, Keeler, Melissa A, Parisi, Sarah E, Marsh, Phillip F, Chance, Ian A, Glass, John M, Graham, Bernard L, Maria, A James, Barkovich, William B, Dobyns   +9 more
openaire   +2 more sources

The Molar Tooth Sign of Joubert Syndrome

Archives of Neurology, 2007
Jyoti, Kumar, Atin, Kumar, Sanchita, Saha   +2 more
openaire   +2 more sources