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Scholars Journal of Medical Case Reports | Volume-12 | Issue-01
"Molar Tooth" Sign Pathognomonic of Joubert Syndrome
Aloumba-Gilius Donald Wilhem, Ali Mheimed, Johane Dzota, Daoud Bentaleb, Dalale Laouidiyi, Kamilia Chbani, Siham Salam
Published: Jan. 27, 2024 | 76 64
DOI: 10.36347/sjmcr.2024.v12i01.026
Pages: 103-104
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Abstract
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. No respiratory disorders were observed in our case. Magnetic resonance imaging revealed the pathognomonic sign of the molar tooth in the posterior cerebral fossa.