Caudal regression syndrome (sacral agenesis)
Introduction
A congenital malformation of caudal axial skeleton.
Etiology, pathogenesis
- sporadic incidence
- strong association with gestational diabetes, the risk increases 250× compared
with normal population
Clinical signs
- sacral spine agenesis (may extend as far as lower lumbal vertebrae)
- lower limbs are in abnormal fixed position (Buddha position), short, immovable
- variable congenital malformations of internal organs (anorectal atresia,
congenital renal malformations, genital malformations)
- caudal regression syndrome is similar to sirenomelia; according to some authors,
sirenomelia is an extreme variant of caudal regression, but
in new studies these two syndromes are taken separately.
- prognosis: depends on the severity an type of neurological malformations
(caudal end of the spinal cord is not developed)
Caudal regression (72522)
Caudal regression, Macro, autopsy (72522)