Klippel feil syndrome

Klippel-Feil Syndrome

“…The pathophysiology is thought to be due to the failure of segmentation of the cervical spine during embryological development 11 . Some authors have suggested vascular disruption, global fetal insult, and primary neural tube complications, in addition to genetic mutations, as potential causes of cervical spine segmentation failure 20 . The Online Mendelian Inheritance in Man (OMIM) has identified mutations in GDF6 (MIM: 601147), MEOX1 (MIM: 600147), GDF3 Disclosure: The Disclosure of Potential Conflicts of Interest forms are provided with the online version of the article (http://links.lww.com/JBJSREV/A799).…”

“…In addition to its rarity and clinical variance, KFS can be difficult to diagnose because of its associations with other syndromes such as fetal alcohol syndrome. Differential diagnoses include juvenile rheumatoid arthritis, fibrodysplasia ossificans progressiva, Goldenhar syndrome, previous anterior cervical fusion without instrumentation, and seronegative spondyloarthropathies 20,48,66 . Čota et al described the case of a patient with cervical segment fusion on imaging and positive human leukocyte antigen (HLA) B27 who was initially worked up for seronegative spondyloarthropathies 67 .…”

“…KFS has been linked to many orthopaedic-related sequelae, including cervical myelopathy and radiculopathy due to adjacent segment disease, scoliosis, kyphosis, and Sprengel deformity [15][16][17][18][19][20][21][22][23][24][25][26][27] . To our knowledge, no recent study has compiled the current understanding of the clinical presentation of KFS as well as the current surgical and nonsurgical management of KFS and its orthopaedic sequelae.…”