title: Klippel-Feil syndrome with osteopoikilosis in a young lady and her four female relatives with osteopoikilosis.
abstract: Osteopoikilosis is a rare, usually asymptomatic, autosomal dominant bone disorder, which is usually found incidentally on X-ray. Klippel-Feil syndrome is a rare disorder characterized by the congenital fusion of any two of the seven cervical (neck) vertebrae. It is caused by a failure in the normal segmentation or division of the cervical vertebrae during the early weeks of fetal development. In this case report, we describe a woman with osteopoikilosis associated with type 2 Klippel-Feil syndrome. Additionally, four female members of her family had osteopoikilosis. We state that possible syndromes that can go with osteopoikilosis must be kept in mind in case of an incidental diagnosis in daily practice.
authors.affiliation: Medical Faculty Department of Orthopaedics and Traumatology, Dumlupinar University, Kutahya, Turkey. tokerserdar@hotmail.com
authors.forename: Serdar
authors.initials: S
authors.lastname: Toker
authors.forename: Volkan
authors.initials: V
authors.lastname: Kilincoglu
authors.forename: Koray
authors.initials: K
authors.lastname: Unay
authors.forename: Erden
authors.initials: E
authors.lastname: Erturer
authors.forename: Figen
authors.initials: F
authors.lastname: Taser
authors.forename: Erim
authors.initials: E
authors.lastname: Gulcan
authors.forename: Demet
authors.initials: D
authors.lastname: Ilhan
mesh_terms: D000328:Adult; D002574:Cervical Vertebrae / Q000000981:diagnostic imaging; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D033162:Incidental Findings; D007714:Klippel-Feil Syndrome / Q000175:diagnosis* / Q000235:genetics*; D008875:Middle Aged; D010023:Osteopoikilosis / Q000175:diagnosis* / Q000235:genetics*; D010375:Pedigree; D011859:Radiography