title: Klippel-Feil anomaly with Sprengel anomaly, omovertebral bone, thumb abnormalities, and flexion-crease changes: novel association or syndrome?
abstract: We report on a family with Klippel-Feil anomaly (KF), Sprengel anomaly, omovertebral bone, thumb abnormalities, and flexion-crease abnormalities. This combination of abnormalities does not fit into Holt-Oram syndrome, Wildervanck syndrome, oculo-auriculo-vertebral (Goldenhar) anomaly, or the VATER complex. Clinical aspects of a KF classification are discussed. The state of molecular research on KF is briefly reported. We conclude that this set of anomalies is a novel combination, probably representing pleiotropy of a single Mendelian gene.
authors.affiliation: Department of Genetics, Gundersen Lutheran Medical Center, La Crosse, Wisconsin 54601, USA.
authors.forename: A R
authors.initials: AR
authors.lastname: Larson
authors.forename: K D
authors.initials: KD
authors.lastname: Josephson
authors.forename: R M
authors.initials: RM
authors.lastname: Pauli
authors.forename: J M
authors.initials: JM
authors.lastname: Opitz
authors.forename: M S
authors.initials: MS
authors.lastname: Williams
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology; D000293:Adolescent; D002574:Cervical Vertebrae / Q000002:abnormalities*; D005192:Family Health; D005385:Fingers / Q000002:abnormalities*; D006801:Humans; D007714:Klippel-Feil Syndrome / Q000473:pathology*; D008297:Male; D010375:Pedigree; D012540:Scapula / Q000002:abnormalities*; D013577:Syndrome; D013933:Thumb / Q000002:abnormalities*