Rosti, Rasim Özgür Gülhane Military Medical Academy - Department of Medical Genetics, Turkey , Kozan, Salih Gülhane Military Medical Academy - Department of Genetics, Turkey , Torun, Deniz Gülhane Military Medical Academy - Department of Genetics, Turkey , Bahçe, Muhterem Gülhane Military Medical Academy - Department of Medical Genetics, Turkey , Güran, Şefik Gülhane Military Medical Academy - Department of Medical Biology, Turkey

Joubert syndrome with oculomotor apraxia: a case report

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In this paper, a 7 month old male case born to a first degree cousin marriage, referred to our department for oculomotor apraxia and hypotonia, diagnosed as having Joubert syndrome is discussed. Broad forehead, depressed nasal bridge, hypertelorism, hypotonia and oculomotor apraxia were found in physical examination. Pulmoner stenosis was reported in echocardiography. His peripheral blood cytogenetic analysis revealed 46, XY normal constitutional karyotype. “Molar tooth sign”, a pathognomonic finding for this syndrome was observed in cranial magnetic resonance images. In Joubert syndrome; dysmorphic skeletal findings, liver and kidney problems can be observed. In early diagnosed cases, like our case, clinical follow up is important for detetion of the liver and kidney involvement.

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Joubert syndrome , oculomotor apraxia , molar sign , hypotonia , hypertelorism

Cumhuriyet Medical Journal

355