Joubert syndrome associated with unilateral ptosis and Leber congenital amaurosis.
Two siblings are described with clinical features of Joubert syndrome associated with unilateral ptosis, severe visual disturbances with normal appearing fundi, and an occipital meningocele; one child also had polydactyly. Neither child manifested responses to electroretinography and one did not manifest visual evoked potentials. The siblings were considered to have characteristics of Leber congenital amaurosis and Joubert syndrome as well as unilateral ptosis. The presence of these findings in siblings suggests a genetic basis for their disease. Careful investigations should be conducted on infants with dysplasia of the cerebellar vermis, including tests for respiratory irregularities, retinal abnormalities, and renal abnormalities to further clarify the interrelationships of these conditions.
D000015:Abnormalities, Multiple / Q000235:genetics; D001049:Apnea / Q000235:genetics*; D001763:Blepharoptosis / Q000235:genetics*; D001766:Blindness / Q000235:genetics*; D002531:Cerebellum / Q000002:abnormalities; D002648:Child; D002675:Child, Preschool; D006801:Humans; D008297:Male; D008588:Meningocele / Q000235:genetics; D013577:Syndrome