Caudal Regression Syndrome-A Narrative Review: An Orthopedic Point of View

Abstract

Abnormalities in cellular differentiation during embryo-fetal period may lead to various malformations of the spine. Caudal regression syndrome (CRS) is a group of defects with premature growth/development termination of the vertebral column. CRS can be divided into three types: sirenomelia, complete absence of the sacrum and partial absence of the sacrum. Genitourinary and gastrointestinal anomalies are common, with neurogenic bladder and bowel incontinence. Treatment of patients with CRS is complex and multidisciplinary and should be comprehensive. The most common orthopedic problems are: spinal deformity (kyphosis and scoliosis), spinopelvic instability and lower limbs deformities.

Keywords: caudal regression syndrome; pediatric spine; sacral agenesis.

Figure 1

Sirenomelia.

Figure 2

Typical sitting position of a child with complete absence of sacrum and some lumbar vertebra.

Figure 3

8-month-old girl with complete absence of sacrum. (A)—ap view, (B)—lateral view.

Figure 4

A boy with partial absence of sacrum, scoliosis and hip dysplasia. (A)—ap view, (B)—lateral view.

Figure 5

CRS. CT scans of spine and pelvis in total agenesis of sacrum and lower lumbar vertebra.

Figure 6

(A,B) Neurogenic clubfoot deformity. Partial sacral agenesis.

Figure 7

MRI scan. Atypical CRS: absence of lower lumbar vertebra and sacral hypoplasia.