Two cases of Klippel - Feil Syndrome

Klippel-Feil Syndrome (KFS), also known as synostosis of cervical spine, is sporadic, but seldom may be inherited [1,2]. The absence of population screening studies has made it impossible to define the exact incidence and prevalence of KFS. Nevertheless, it has been estimated that it occurs in approximately 1:40,000 to 1:42,000 births [3]. KFS, or synostosis of the cervical spine, occurs as a result of failure in normal segmentation of cervical mesodermal somites during embryonic development. This failure occurs at second-eight weeks of gestation and its cause is unknown [1]. Associated abnormalities may include scoliosis or kyphosis, Sprengel’s deformity, hemivertebrae, platybasia, basilar impression, spina bifida, anomalies of the kidneys and the ribs, cleft palate, respiratory problems, deafness or hearing impairment, and heart malformations [1]. We present two specimens with congenital fusion of C2 with C3. Exhaustive macroscopic observations were performed on the specimens in order to describe the lesions as well as to identify other anomalies.