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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 counseled and they opted for an interruption of the pregnancy. After the delivery, the diagnosis of the lower extremities was confirmed and radiological examination of the skeleton revealed a complete absence of the vertebrae below the eight thoracic vertebrae. There was either a posterior fusion of some right ribs and posterior anomalies of the vertebrae segmentation. The diagnosis of spondylo-costal dysostosis was suspected. There was an atria-ventricular septal defect, a single umbilical artery and a right ureteral bifidity. The patient was informed about the Jarcho Levin syndrome, an autossomal recessive disorder.

This case confirms that «anatomical-pathologic analysis» (we prefer not to use the name «autopsy», not to scare the parents) is really important and may detected some rare syndromes, as in our case. So in the next pregnancy the parents were counseled to perform an early ultrasound examination to evaluate the fetal anatomy.


The normal right femur and the short left one

Abnormal right leg

Left tibia and left foot

Normal left leg

Left image: Note the absence of the spine below the thoracic level 8. Right image: Arnold-Chiari syndrome

Single umbilical artery and the ventricular septal defect

Radiography views showing the spine defect and the abnormal right lower limb

Postnatal images