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

Case Reports in Orthopedics
John W StelzerChristopher Wasyliw

Abstract

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. 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. 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 gi...Continue Reading

References

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Citations

Jun 20, 2019·Rheumatology International·Stjepan ČotaPorin Perić
May 11, 2021·International Journal of Paleopathology·Zuzana Hukeľová, Mária Krošláková

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