Joubert syndrome associated with multicystic kidney disease and hepatic fibrosis.
There are several diseases characterized by renal cysts and neurological abnormalities. Joubert syndrome is distinguished by hypoplasia of the cerebellar vermis, hypotonia, retinal dystrophy characterized by abnormal eye movements, and impaired psychomotor development, together with abnormal respiratory pattern. We describe a boy with Joubert syndrome associated with multicystic renal dysplasia and hepatic fibrosis. We speculate that the association of malformations of the renal and nervous systems in this syndrome and others are not random. Concomitant malformations of these systems are likely based upon their common developmental and genetic features.
Silverstein
D M
DM
Department of Pediatrics, Albert Einstein College of Medicine, Bronx, New York 10461, USA.
Zacharowicz
L
L
Edelman
M
M
Lee
S C
SC
Greifer
I
I
Rapin
I
I
D001921:Brain / Q000473:pathology; D002531:Cerebellum / Q000002:abnormalities*; D017809:Fatal Outcome; D006801:Humans; D007223:Infant; D007668:Kidney / Q000473:pathology; D008103:Liver Cirrhosis / Q000150:complications* / Q000473:pathology; D008297:Male; D007690:Polycystic Kidney Diseases / Q000150:complications* / Q000473:pathology; D013577:Syndrome; D001743:Urinary Bladder / Q000473:pathology