We present you congenital musculoskeletal anomalities in patients with Klippel-Feil syndrome and usage of imaging techniques and genetic research to differentiate this rare condition from other similar syndromes and congenital malformations. Combination оf early diagnosis and fast treatment is very important for patients with Klippel-Feil syndrome.

Klippel-Feil syndrome is a complex heterogeneous entity that results in cervical vertebral fusion. Two or more non-segmented cervical vertebrae are usually sufficient for diagnosis.[1] There is a recognised female predilection. Klippel-Feil syndrome has an incidence of 1:40,000-42,000. The classic clinical triad of a short neck, low hairline, and restricted neck motion is considered to be present in <50% of patients with this syndrome. [2] It is believed to result from faulty segmentation along the embryo’s developing axis during the third to eight weeks of gestation....

Plain radiogrpah is first imaging method of choice. It is very helpful and can show vertebral fusion, anteroposterior narrowing of the vertebral bodies (wasp-waist sign), hemivertebra, omovertebral bone, spina bifida , associated scoliosis and Sprengel deformity. CT is able to better image many of the features seen on plain radiography and in addition may demonstrate canal stenosis. Central canal narrowing is generally associated with secondary degenerative changes. It is a valuable tool to assess bony anatomy and is very helpful in pre-operative planning.[8] MRI is...

The discovery of various abnormalities, especially those related to the musculoskeletal system, with the necessary imaging techniques associated with genetic research, is of key importance for the detection of Klippel -Feil syndrome and its differentiation with similar conditions such as ankylosing spondilytis, complications of discitis and juvenile idiopathic arthritis. Early diagnosis is valuable because of the numerous possible associated anomalies and their complications, such as basilar invagination, neural dysgenesis, and skeletal and visceral anomalies. Finally, since Klippel-Feil syndrome predisposes to spinal and neural injury, awareness...

1. Floemer F, Magerkurth O, Jauckus C et-al. Klippel-Feil syndrome and Sprengel deformity combined with an intraspinal course of the left subclavian artery and a bovine aortic arch variant. AJNR Am J Neuroradiol. 2008;29 (2): 306-7 2. Yuksel M, Karabiber H, Yuksel KZ et-al. Diagnostic importance of 3D CT images in Klippel-Feil Syndrome with multiple skeletal anomalies: a case report. Korean J Radiol. 2006;6 (4): 278-81 3. Clarke, R. A., Catalan, G., Diwan, A. D., & Kearsley, J. H. (1998). Heterogeneity in Klippel-Feil syndrome: a...