Denouement and Discussion
Congenital Brevicollis (Klippel-Feil Syndrome)
The major findings include fusion of the cervical vertebrae, short neck, and low posterior hairline. The syndrome consists of three basic types. In type 1 there is massive fusion of many cervical and upper thoracic vertebrae into bony blocks. Patients with type 2 usually have fusions at only one or two interspaces, although other vertebral abnormalities may be present. Fusion of both cervical and lower thoracic or lumbar vertebrae constitutes type 3. Other manifestations include limitation of neck movement, webbing of the neck, kyphosis or scoliosis or both, Sprengel's deformity, facial asymmetry, macrocephaly, hydrocephaly, preauricular appendages, strabismus, nystagmus, dermoids of the eye, cleft lip or palate or both, hearing defect, dental abnormalities, rib abnormalities, congenital heart disease, cryptorchidism, renal abnormalities, and meningocele. Neurological findings include mirror movement, syringomyelia, hemiplegia, and quadriplegia. Mental retardation may be present but is not a common finding.
Gellis SS, Feingold M. Picture of the Month. Am J Dis Child. 1971;121(6):501-502. doi:10.1001/archpedi.1971.02100170083010