Spine Deformities in Rare Congenital Syndromes

Abstract

For optimal patient care, it is necessary to have a clear understanding of exotic congenital syndromes and how they may impact on both the presentation of spinal deformity and the response to treatment, as well as how they may introduce additional morbidity into standard treatment plans. It is clear that with this understanding that preoperative strategies can be employed to enhance the safety of spinal treatment for these unique children.

L’arthrogrypose : manifestations cliniques et prise en charge

“…Les autres doigts sont fléchis au niveau de l'articulation interphalangienne proximale. La fréquence d'une déformation de la colonne vertébrale est très variable (entre 2,5 % et 65,9 %) [10]. Les plis de flexion articulaire sont souvent absents et il peut exister des fossettes à proximité des articulations.…”

Anatomical dissection of a cadaver with congenital scoliosis

“…According to previous work, malformations of the ribs, chest cavity, and scapulae are often a common finding with severe scoliosis [1, 2,8,10]. Additionally, it has been suggested that when spinal deformities are severe, thoracic insufficiency syndrome is often present as the thorax is unable to support normal respiratory movements [6].…”

Neural Tube Defects in Jarcho-Levin Syndrome: Study of Twenty-Eight Cases

“…They described 2 patients with short neck and short thorax resulting from multiple congenital vertebral and rib cage malformations [8,9]. In 1978, Solomon et al [4] classified cases of JLS into two phenotypic groups: STD and SCD.…”