A case of cerebello-oculo-renal syndrome with situs inversus totalis: a new phenotype.
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.
Aydinoz
Secil
S
Department of Pediatrics, GATA Haydarpasa Teaching Hospital, Istanbul, Turkey. saydinoz@gmail.com
Ersen
Atilla
A
Karademir
Ferhan
F
Suleymanoglu
Selami
S
Ozkaya
Halit
H
Gocmen
Ismail
I
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*