Klippel-Feil syndrome with osteopoikilosis in a young lady and her four female relatives with osteopoikilosis

Toker S., Kilincoglu V., Unay K., Erturer E., Taser F., Gulcan E., ...More

CLINICAL RHEUMATOLOGY, vol.28, no.2, pp.235-238, 2009 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 28 Issue: 2
  • Publication Date: 2009
  • Doi Number: 10.1007/s10067-008-1053-3
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.235-238
  • Keywords: Klippel-Feil syndrome, Osteopoikilosis, BUSCHKE-OLLENDORFF-SYNDROME, MENTAL-RETARDATION, STATURE
  • Eskisehir Osmangazi University Affiliated: No


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.