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Ciliopathies encompass numerous clinical entities caused by anomalies in the structure or function of primary cilia. Among them, Jeune Syndrome (JS) is described as a rare skeletal dysplasia with its variants: type I with short survival and type II with a narrow thorax, shortening of long bones, pelvic abnormalities, cardiac and renal complications, pulmonary hypoplasia, retinitis pigmentosa, and normal intellect. This report describes an 8-year-old girl with a clinical diagnosis of type II JS and end-stage chronic kidney disease. The genetic study detected variants in DYNC2I1 (probably a pathogenic heterozygous variant), TTC21B (a heterozygous variant of uncertain clinical significance), and ACAN genes (a heterozygous variant of uncertain clinical significance). The detected variants are located in genes related to the structure and function of the primary cilia, suggesting that the observed clinical feature in the case is a ciliopathy. [ABSTRACT FROM AUTHOR]

INTRODUCTION: The Joubert-Boltshauser syndrome (JBS) is an uncommon condition, with autosomal recessive inheritance pattern. Less than 10% show retrocerebellar cyst or abnormal collections of cerebrospinal fluid in the fourth ventricle or the posterior fossa associated to Dandy-Walker Malformation (DWM). The JBS is included in the dysgenesis spectrum of cerebellar-oculo-renal syndromes associated to ciliopathies. CASE REPORTS: We describe two cases of JBS with DWM. Both cases progressed with global psychomotor delay, abnormal breathing pattern, hypotonia and nistagmus. Brain magnetic resonance imaging (MRI) showed cerebellar vermis hypoplasia and elongation of the superior cerebellar peduncles "molar sign" and other dysgenesis. We compare the clinical and imaging features so far reported in the literature. CONCLUSION: The JBS associated with Dandy -Walker malformation is uncommon and poorly recognized, the prenatal diagnosis by high-resolution ultrasound and fetal MRI is also possible. Suggesting possible mechanisms to explain the association. [ABSTRACT FROM AUTHOR]