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2006-06-06-14 Jarcho-Levin syndrome with caudal regression © Cuillier

Jarcho-Levin syndrome with caudal regression

Cuillier F, MD*, Charpentier AS**, M’Lamali H***, Colbert R, MD***

* Department of Gynecology, Félix Guyon’s Hospital ** Department of Gynecology, Gabrile Martin’s Hospital *** Sonographer, Saint-Paul, Réunion Island, France

Definition: Caudal regression syndrome is a rare congenital defect characterized by the absence of the sacrum and a defect of lumbar spine. It is considered to be the most characteristic of all congenital anomalies associated with maternal diabetes mellitus.

Case report: This is a 22-year-old-woman, G2P1, referred to our unit (Gabriel Martin Hospital) at 24 weeks. During the first trimester, the triple test and nuchal translucency were not measured. Ultrasound examination revealed a single fetus in a pelvic presentation and the following ultrasound findings:

  • The amniotic fluid was nearly absent
  • The placenta was normal
  • The lower extremities were abnormal, in a fixed position
    • The length of the femurs were different
    • The right leg was abnormal. The right femur was very short (right femur = 15 mm and left femur = 40 mm). The right tibia was not present and the foot was malaligned. The right leg was on adduction position, coiling up the left femur.
    • The left leg: clubfoot.
  • An Arnold Chiari syndrome was diagnosed. Below the thoracic level 8, there was a complete absence of the vertebrae. Nevertheless the spine was really difficult to evaluate because the fetus was on the same position during the entire scan (the spine was posteriorly located).
  • A single umbilical artery was seen
  • The two kidneys were normal as well as the bladder
  • The fetus was male and the phallus seemed normal
  • An intraventricular septal defect was seen


The parents were counsele