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

Amy R.U Larson; Kevin D Josephson; Richard M Pauli; John M Opitz; Marc S Williams

doi:10.1002/1096-8628(20010615)101:2<158::AID-AJMG1343>3.0.CO;2-4

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

Journal article

Peer reviewed

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

Amy R.U Larson, Kevin D Josephson, Richard M Pauli, John M Opitz and Marc S Williams

American journal of medical genetics, Vol.101(2), pp.158-162

06/15/2001

DOI: 10.1002/1096-8628(20010615)101:2<158::AID-AJMG1343>3.0.CO;2-4

PMID: 11391660

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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.

Klippel-Feil anomaly

omovertebral bone

Klippel-Feil classification systems

Sprengel anomaly

thumb anomalies

Details

Title: Subtitle: Klippel-Feil anomaly with Sprengel anomaly, omovertebral bone, thumb abnormalities, and flexion-crease changes: Novel association or syndrome?
Creators: Amy R.U Larson - Department of Genetics, Gundersen Lutheran Medical Center, La Crosse, Wisconsin
Kevin D Josephson - Department of Genetics, Gundersen Lutheran Medical Center, La Crosse, Wisconsin
Richard M Pauli - Department of Pediatrics and Medical Genetics, University of Wisconsin, Madison, Wisconsin
John M Opitz - Department of Human Genetics, University of Utah, Salt Lake City, Utah
Marc S Williams - Department of Genetics, Gundersen Lutheran Medical Center, La Crosse, Wisconsin
Resource Type: Journal article
Publication Details: American journal of medical genetics, Vol.101(2), pp.158-162
DOI: 10.1002/1096-8628(20010615)101:2<158::AID-AJMG1343>3.0.CO;2-4
PMID: 11391660
NLM abbreviation: Am J Med Genet
ISSN: 0148-7299
eISSN: 1096-8628
Publisher: John Wiley & Sons, Inc
Number of pages: 5
Language: English
Date published: 06/15/2001
Academic Unit: Stead Family Department of Pediatrics; Medical Genetics and Genomics
Record Identifier: 9984093482702771

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