Results 131 to 140 of about 6,129 (165)

Neurorehabilitation and Functional Improvement in Joubert Syndrome: A 12-Month Case Report. [PDF]

open access: yesChildren (Basel)
Mański Ł   +7 more
europepmc   +1 more source

Molar Tooth Sign Is Not Pathognomonic for Joubert Syndrome [PDF]

open access: yesPediatric Neurology, 2013
A 12-year-old girl was admitted for the evaluation of epilepsy and psychomotor retardation. She was born at term after an uneventful pregnancy. There was no consanguinity. Developmental milestones were delayed and she had been treated for epilepsy since 3months of age.
YİŞ, ULUÇ   +2 more
openaire   +4 more sources

Prenatal Ultrasonographic Molar Tooth Sign: Case Reports and Review of Literature

Journal of Fetal Medicine, 2021
AbstractJoubert Syndrome and Related Disorders (JSRD) refers to all disorders presenting as “molar tooth sign” (MTS) on brain imaging. Fetuses with JSRD present with relatively nonspecific signs on prenatal ultrasound varying from increased nuchal translucency, enlarged cisterna magna, cerebellar vermian agenesis, occipital encephalocele ...
Rinshi Abid Elayedatt   +2 more
exaly   +2 more sources

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.
N Bahi-Buisson, P De Lonlay
exaly   +3 more sources

The “molar tooth” sign

Abdominal Radiology, 2015
Raymond B Dyer, Dyer Raymond B
exaly   +3 more sources

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

open access: yesGenetic 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 ...
CAGLAYAN, A. O.   +4 more
openaire   +4 more sources

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