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Case Reports in Orthopedics
Volume 2018, Article ID 5796730, 5 pages
Case Report

Klippel–Feil Syndrome with Sprengel Deformity and Extensive Upper Extremity Deformity: A Case Report and Literature Review

1Department of Orthopaedic Surgery, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA
2Department of Diagnostic Radiology, Florida Hospital, Orlando, FL, USA
3University of Central Florida College of Medicine, Orlando, FL, USA

Correspondence should be addressed to John W. Stelzer; moc.liamg@rezletswj

Received 24 August 2017; Accepted 26 November 2017; Published 18 January 2018

Academic Editor: Koichi Sairyo

Copyright © 2018 John W. Stelzer et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


Introduction. Klippel–Feil syndrome (KFS) is a congenital anomaly resulting from fusion of cervical vertebral bodies secondary to the dysregulation of signaling pathways during somite development. It is commonly associated with scoliosis and Sprengel deformity. We present a case of KFS with commonly associated abnormalities as well as deformities that have not yet been reported in the literature. Case Presentation. A 3-year-old girl presented for further evaluation of a left upper extremity deformity following a negative genetic workup. Upon physical exam and radiographic imaging, the patient was diagnosed with KFS and associated abnormalities including cervical scoliosis, Sprengel deformity, and congenital deformity of the left upper extremity. Deformities of the left upper extremity include radioulnar synostosis, a four-rayed hand, and absent thenar musculature. The Sprengel deformity was corrected surgically with a Woodward procedure. Discussion. Congenital musculoskeletal deformities can be differentiated based upon spinal and limb embryology. The presence of extraspinal abnormalities not originating from somite differentiation may suggest a severe form of KFS. Important considerations in the workup of the KFS patient include looking for deformities of the shoulder girdle and upper extremities to identify abnormalities for intervention at a young age.