Congenital Spinal Deformity eMedicine Orthopedics

Description: Congenital deformities of the spine are caused by anomalous vertebral development in the embryo. Minor malformations of the spine are seldom apparent and often are identified only on routine chest films (see Image 1). The more severe congenital malformations that result in progressive scoliosis are even less common than are idiopathic scolioses (see Image 2). Congenital anomalies of the spine may be simple and benign, causing no spinal deformity, or they may be complex, producing severe spinal deformity or even cor pulmonale or paraplegia. The 3 major patterns of congenital spinal deformity are hyperlordosis, kyphosis, and scoliosis. Congenital scoliosis may have marked rotation (kyphoscoliosis) or take the form of true kyphoscoliosis, in which rotation is not a major component of the deformity.
Synonyms and related keywords: hyperlordosis, lordosis, kyphosis, scoliosis, congenital scoliosis, sacral agenesis, lumbosacral agenesis, cervical spine anomalies, basilar impression, invagination, occipitalization of the atlas, assimilation of the atlas into the occipital bone, occipitocervical synostosis, odontoid anomalies, Klippel-Feil syndrome, trisomy 21 syndrome, Down syndrome, deletion 5p syndrome, chromosomal number 5 syndrome, Kabuki syndrome, Noonan syndrome, Turnerlike syndrome, Aarskog syndrome, cervico-oculo-acoustic syndrome, Wildervanck syndrome, MURCS association, VACTERL association, VACTERL syndrome, Jarcho-Levin syndrome, spondylothoracic dysplasia, proteus syndrome
Letts & Jawadi 2007