Klippel-Feil anomaly with Sprengel anomaly, omovertebral bone, thumb abnormalities, and flexion-crease changes: Novel association or syndrome?

We report on a family with Klippel-Feil anomaly (RF), Sprengel anomaly, omo vertebral bone, thumb abnormalities, and flexion-crease abnormalities, This combination of abnormalities does not fit into Holt-Gram syndrome, Wilderv anck syndrome, oculo-auriculo-vertebral (Goldenhar) anomaly, or the VATER c omplex. Clinical aspects of a KF classification are discussed. T]he state o f molecular research on MF is briefly reported. We conclude that this set o f anomalies is a novel combination, probably representing pleiotropy of a s ingle Mendelian gene. (C) 2001 WiIey-Liss, Inc.