Deleterious mutations of the Centrosome/Spindle Pole associated Protein 1 gene, CSPP1, are causative for Joubert-syndrome and Joubert-related developmental disorders. These disorders are defined by a characteristic mal-development of the brain, but frequently involve renal and hepatic cyst formation. CSPP-L, the large protein isoform of CSPP1 localizes to microtubule ends of the mitotic mid-spi...

Background Joubert syndrome (JS) is a rare, autosomal recessively inherited genetic disorder characterized morphologically by unique developmental malformations of the cerebellum and brainstem (the molar tooth sign), and clinically by impaired motor functions and intellectual disability. Patients with JS often face multiple cognitive challenges, but the neuropsychological profile of this condit...

Nephronophthisis associated ciliopathies (NPHP-AC) are a group of phenotypically related conditions that include Joubert syndrome, Meckel syndrome, nephronophthisis (NPHP), and Senior-Loken syndrome. We report on a male fetus with prenatal ultrasound findings at 24 weeks of gestation of anhydramnios, large and echogenic kidneys and situs inversus totalis. Histopathology revealed nephronophthisi...

how to cite this article: shakiba m, nejad biglari h, alaee mr. digital and dental malformation and short stature in a patient with neurological problems: a variant of the oculodentodigital dysplasia syndrome or a new syndrome?iran j child neurol autumn 2012; 6(4): 51-54.   abstract several syndromes have been recognized with digital abnormality and cns involvement such as oculodentodigital dys...

Case Report A 2.5 year old girl with motor and mental retardation, nystagmus and ataxic movements was referred to our department for a cranial magnetic resonance imaging study. She was the first child of a second degree consanguineous marriage. The parents also informed that she had abnormal eye movements and delayed neurologic development. She was diagnosed in another medical center as having ...