title: Lumbar split cord malformation and Klippel-Feil syndrome.
abstract: The authors report a patient with type II split cord malformation (SCM) and Klippel-Feil syndrome (KFS). Considering our review of the medical literature and present case report, we believe lumbar SCM and KFS in the same patient not to be coincidental findings but rather embryologically related entities. We propose that KFS in at least one of its phenotypes represents a forme fruste of occult spinal dysraphism.
authors.affiliation: Department of Cell Biology, University of Alabama at Birmingham, Birmingham, AL 35233, USA. richard.tubbs@ccc.uab.edu
authors.forename: R Shane
authors.initials: RS
authors.lastname: Tubbs
authors.forename: John C
authors.initials: JC
authors.lastname: Wellons
authors.forename: W Jerry
authors.initials: WJ
authors.lastname: Oakes
mesh_terms: D000293:Adolescent; D005260:Female; D006801:Humans; D007714:Klippel-Feil Syndrome / Q000150:complications* / Q000473:pathology; D008279:Magnetic Resonance Imaging; D010641:Phenotype; D013116:Spinal Cord / Q000002:abnormalities* / Q000196:embryology