Joubert-Boltshauser syndrome with polydactyly in siblings.
Two siblings are described with clinical features of the Joubert-Boltshauser syndrome. Both had polydactyly and one had fleshy tumours of the tongue. Computed tomography of the brain showed hypoplasia of the cerebellar vermis, associated in one case with a cyst of the fourth ventricle.
D001049:Apnea / Q000235:genetics; D002531:Cerebellum / Q000002:abnormalities*; D002675:Child, Preschool; D003616:Dandy-Walker Syndrome / Q000235:genetics; D004569:Electroencephalography; D005071:Evoked Potentials; D005133:Eye Movements; D005260:Female; D005385:Fingers / Q000002:abnormalities*; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D012120:Respiration Disorders / Q000235:genetics*; D013577:Syndrome; D014057:Tomography, X-Ray Computed