title: Cholelithiasis in cervico-oculo-acoustic (Wildervanck's) syndrome.
abstract: An unusual case of cholelithiasis in an 18-month-old boy with cervico-oculo-acoustic (Wildervanck's) syndrome is presented. Our patient had Duane's retraction syndrome, Klippel-Feil anomaly and congenital deafness. To our knowledge this is the first case in which a probable association between cholelithiasis and Wildervanck's syndrome has been recorded. On the other hand, the presence of mutual malformations and anomalies such as scoliosis, ventricular septal defect, ectopic kidney, hydrocephalus, hypoplastic thumb and growth retardation seems to suggest that Wildervanck's syndrome is a clinical variant of Klippel-Feil sequence.
authors.affiliation: Department of Pediatrics, Faculty of Medicine, Dokuz Eylũl University, Izmir, Turkey.
authors.forename: G
authors.initials: G
authors.lastname: Kõse
authors.forename: H
authors.initials: H
authors.lastname: Ozkan
authors.forename: F
authors.initials: F
authors.lastname: Ozdamar
authors.forename: S
authors.initials: S
authors.lastname: Kavukçu
authors.forename: D
authors.initials: D
authors.lastname: Ozaksoy
mesh_terms: D000015:Abnormalities, Multiple; D002769:Cholelithiasis / Q000150:complications*; D004370:Duane Retraction Syndrome / Q000150:complications*; D006312:Hearing Loss, Bilateral / Q000151:congenital*; D006319:Hearing Loss, Sensorineural / Q000151:congenital*; D006801:Humans; D007223:Infant; D007714:Klippel-Feil Syndrome / Q000150:complications*; D008297:Male; D013577:Syndrome