Results 281 to 290 of about 55,299 (297)

A provisionally unique syndrome with features including "molar tooth" sign and "femoral hypoplasia".

Genetic counseling (Geneva, Switzerland), 2009
A provisionally unique syndrome with features including "molar tooth" sign and "femoral hypoplasia": The femoral-facial syndrome (FH-UFS) is a rare syndrome of uncertain inheritance comprising hypoplastic femora, microretrognathia, and peculiar facies. We describe a new case with facial dysmorphism, broad chest and widely spaced nipples, shorter right ...
Ahmet Okay Çağlayan, Hakan Gümüş, Ali Yıkılmaz, G O Gumus, Hüseyin Per   +4 more
openalex   +4 more sources

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

American Journal of Medical Genetics Part A, 2005
Bernard N. Chodirker, Namrata Shah, Martin Bunge, Martin H. Reed   +3 more
openalex   +3 more sources

Molar Tooth Sign in Fetal Brain Magnetic Resonance Imaging Leading to the Prenatal Diagnosis of Joubert Syndrome and Related Disorders

Journal of Child Neurology, 2006
J. Fluss, S. Blaser, D. Chitayat, H. Akoury, P. Glanc, M. Skidmore, C. Raybaud   +6 more
semanticscholar   +2 more sources

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Molar Tooth Sign and Superior Vermian Dysplasia: A Radiological, Clinical, and Genetic Study

Neuropediatrics, 2006
We have identified a group of 13 patients with a homogeneous radiological pattern at MRI consisting of the molar tooth sign (MTS) and superior vermian dysplasia. The patients represent a relatively heterogeneous clinical group with variable severity of developmental delay, ataxia, hypotonia, and apnea.
Isabelle Desguerre, Laurence Hubert, Arnold Munnich, D. Seidenwurm, Francis Brunelle, N Bahi-Buisson, Rémi Salomon, P. de Lonlay, Pascale Sonigo, S. Romano, Stanislas Lyonnet, Rima Nabbout, Nathalie Boddaert   +12 more
openaire   +3 more sources

“Arima syndrome and bilateral retinoblastoma in interstitial deletion of 13q14.13–q32.3”: Where is the molar tooth sign?

Brain and Development, 2011
[2] Brancati F, Dallapiccola B, Valente EM. Joubert Syndrome and related disorders. Orphanet J Rare Dis 2010;5:20. [3] Kumada S, Hayashi M, Arima K, Nakayama H, Sugai K, Sasaki M, et al. Renal disease in Arima syndrome is nephronophthisis as in other Joubert-related cerebello-oculo-renal syndromes. Am J Med Genet A 2004;131:71–6. [4] Gleeson JG, Keeler
Andrea Poretti, Andrea Poretti, Eugen Boltshauser   +2 more
openaire   +2 more sources

Beyond the Molar Tooth: A Review of Imaging Findings in Joubert Syndrome and Related Disorders

Neurographics
Joubert syndrome and related disorders encompass a group of ciliopathies that present with variable neurologic and systemic phenotypes. The diagnosis of Joubert syndrome and related disorders is based on a combination of clinical features and imaging ...
S.S. Gurbani, T. Assaye, T.X. D’souza, J.V. Dennison, S. Palasis, M. Bajaj   +5 more
semanticscholar   +1 more source

The Molar Tooth Sign of Joubert Syndrome

Archives of Neurology, 2007
Sanchita Saha, Jyoti Kumar, Atin Kumar
openaire   +3 more sources

Biallelic TXNDC15 variants associated with Joubert syndrome-related molar tooth sign and forebrain malformation.

Journal of Human Genetics
Yukiko Kuroda, Tamaki Ikegawa, Ayumi Kato, Noriko Aida, Takuya Naruto, Kenji Kurosawa   +5 more
semanticscholar   +1 more source

Neuroimaging findings in Joubert syndrome with C5orf42 gene mutations: A milder form of molar tooth sign and vermian hypoplasia

Journal of Neurological Sciences, 2017
M. Enokizono, N. Aida, T. Niwa, H. Osaka, T. Naruto, K. Kurosawa, Chihiro Ohba, Toshifumi Suzuki, H. Saitsu, T. Goto, N. Matsumoto   +10 more
semanticscholar   +1 more source

The Molar Tooth Sign

Radiology, 2003
openaire   +3 more sources