title: A case of cerebello-oculo-renal syndrome with situs inversus totalis: a new phenotype.
abstract: Cerebello-oculo-renal syndromes are rare, autosomal recessive syndromes with uncertain nosology. Cerebello-oculo-renal syndromes involve many congenital malformations and may be associated with other disorders. The authors present a case of cerebello-oculo-renal syndrome with situs inversus totalis from a consanguineous family. The patient had cerebellar vermis hypoplasia, ocular abnormalities (Leber congenital amaurosis with retinal dystrophy, abnormal eye movements), developmental delay, growth deficiency, severe renal failure, and severe anemia. Imaging studies showed molar tooth sign, which was compatible with cerebello-oculo-renal syndromes and situs inversus totalis.
authors.affiliation: Department of Pediatrics, GATA Haydarpasa Teaching Hospital, Istanbul, Turkey. saydinoz@gmail.com
authors.forename: Secil
authors.initials: S
authors.lastname: Aydinoz
authors.forename: Atilla
authors.initials: A
authors.lastname: Ersen
authors.forename: Ferhan
authors.initials: F
authors.lastname: Karademir
authors.forename: Selami
authors.initials: S
authors.lastname: Suleymanoglu
authors.forename: Halit
authors.initials: H
authors.lastname: Ozkaya
authors.forename: Ismail
authors.initials: I
authors.lastname: Gocmen
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis*; D002531:Cerebellum / Q000002:abnormalities* / Q000473:pathology; D002648:Child; D005124:Eye Abnormalities / Q000175:diagnosis* / Q000473:pathology; D006801:Humans; D007668:Kidney / Q000002:abnormalities* / Q000473:pathology; D008297:Male; D012857:Situs Inversus / Q000150:complications / Q000175:diagnosis*