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

Abstract

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.

Klippel Feil Syndrome Type III with Associated Rare Congenital Anomalies: A Rare Case Report

“…It was initially reported by Maurice Klippel and Andre Feil in 1912 (3). Incidence as reported in different studies is 1:40,000 -1:42000 per live birth with slight female predominance (1,2,5,6).…”

“…Klippel Feil Syndrome (KFS) is defined as congenital anomaly with fusion of two or more cervical vertebral bodies characterized by presence of classic triad which includes low posterior hairline, short neck and restricted range of motion (1,2). Typical classic triad however is found only in about 50% of cases (3,4).…”

“…Prognosis is based on radiological classification by Samartzi's et al which classifies KFS under 3 types; Type I -Single congenitally fused cervical segment; Type II -Multiple, non contiguous congenitally fused cervical segments; Type III -Multiple, contiguous congenitally fused cervical segments with thoracic and lumbar spine anomalies (1,2,4,6).…”

Anesthesia for elective bilateral sagittal slip osteotomy of the mandible and genioplasty in a young man with Klippel-Feil syndrome, Sprengel deformity, and mandibular prognathism

“…The MEOX1 gene creates the homeobox protein MOX1, which regulates separation of the vertebrae. GDF6 and GDF3 gene abnormalities are inherited in an autosomal dominant pattern, while MEOX1 mutations are autosomal recessive [5]. Patients with KFS may be predisposed to congenital spinal stenosis; thus, a relatively low-impact injury may induce a significant neurological deficit [6].…”

“…Patients with KFS may be predisposed to congenital spinal stenosis; thus, a relatively low-impact injury may induce a significant neurological deficit [6]. This syndrome may occur simultaneously with Sprengel deformity, Duane syndrome, renal agenesis, fetal alcohol syndrome, Goldenhar syndrome, Wildervanck syndrome, and other vascular and cardiac abnormalities [567]. Approximately 50% of patients with KFS will present with concurrent scoliosis [789].…”