Klippel-Feil syndrome with osteopoikilosis in a young lady and her four female relatives with osteopoikilosis.
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.
Toker
Serdar
S
Medical Faculty Department of Orthopaedics and Traumatology, Dumlupinar University, Kutahya, Turkey. tokerserdar@hotmail.com
Kilincoglu
Volkan
V
Unay
Koray
K
Erturer
Erden
E
Taser
Figen
F
Gulcan
Erim
E
Ilhan
Demet
D
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