Congenital Defects of the Spine

Spinal malformations make up more than half of all skeletal malformations, but they will manifest themselves symptomatically, in most cases, only after birth. Obviously, the anomalies that can already be recognized in the uterus will be exceptions, such as spina bifida, iniencephaly, OEIS association, sacral agenesis, congenital scoliosis, Jarcho-Levin syndrome, and limb body wall complex. There are also anomalies of the spine which, only rare, are recognizable in the uterus such as the Currarino triad, the Klippel-Feil syndrome, and the Vater association. The message is that of always starting the study of the spine from the observation of the posterior cranial fossa. Indeed, an obliterated cisterna magna is the characteristic sign of the most frequent spinal anomaly represented by spina bifida. The next approach is to observe the spine with longitudinal scan and see that there are vertebral nuclei beyond the ilium and if said nuclei reach the fetal caudal term, and in this way, complete agenesis of the sacrum is excluded. If no lateral deviation of the spinal track is observed, scoliosis tends to be ruled out. The other anomalies are generally easier to recognize due to the coarseness of the malformation.