title: [Hereditary cerebro-oculo-renal syndromes].
abstract: Although many congenital diseases present disturbances of the central nervous system, eyes and renal function, only few of these have a defined genetic basis. The first clinical features of cerebro-oculo-renal diseases usually develop in early childhood and deterioration of kidney function and even end-stage kidney disease may occur in a young age. The syndromes should be considered in patients with retarded growth and development, central nervous system abnormalities, impaired vision or blindness and progressive renal failure.
authors.affiliation: Nefrologisk klinik P, Rigshospitalet, Blegdamsvej 9, 2100 København Ø. sessa.mg@gmail.com.
authors.forename: Galina
authors.initials: G
authors.lastname: Sessa
authors.forename: Tina Duelund
authors.initials: TD
authors.lastname: Hjortshøj
authors.forename: Martin
authors.initials: M
authors.lastname: Egfjord
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D020788:Bardet-Biedl Syndrome / Q000235:genetics / Q000473:pathology; D002526:Cerebellar Diseases / Q000235:genetics; D002531:Cerebellum / Q000002:abnormalities; D002648:Child; D002923:Cilia / Q000235:genetics / Q000502:physiology; D002925:Ciliary Motility Disorders / Q000235:genetics; D000072661:Ciliopathies; D004677:Encephalocele / Q000235:genetics; D005124:Eye Abnormalities / Q000235:genetics; D020022:Genetic Predisposition to Disease; D006801:Humans; D052177:Kidney Diseases, Cystic / Q000235:genetics; D057130:Leber Congenital Amaurosis / Q000235:genetics; D009800:Oculocerebrorenal Syndrome / Q000235:genetics*; D015418:Optic Atrophies, Hereditary / Q000235:genetics; D007690:Polycystic Kidney Diseases / Q000235:genetics; D012160:Retina / Q000002:abnormalities; D012174:Retinitis Pigmentosa