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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

Synonym: caudal regression syndrome; caudal dysplasia sequence; sacral agenesis; phocomelic diabetic embryopathy. 

History: The caudal regression syndrome is an exceptional poli malformation syndrome described for the first time by Geoffroy Saint-Hilaire and Hohl during the XIX century. Friedel in 1910 described the same findings as a total absence of the lumbo-sacral spine. The term of “caudal regression syndrome” was first described by Duhamel in 1961. He introduced this term to explain the spectrum of sacro-coccygeal malformations, of which sirenomelia was thought to be the severe form. According to the literature review (in 1998), more than 250 cases have been described.

Prevalence: Caudal regression syndrome has been observed in only 0.1-0.25:10.000 pregnancies. But the caudal regression syndrome has been observed in only 2/1000 pregnancies complicated by diabetes mellitus. So the relative risk for caudal regression syndrome is increased 250-fold in infants of diabetic woman. Nevertheless, an embryo affected by caudal regression syndrome, are often loss as an early miscarriage.

Etiology: The caudal regression syndrome is often sporadic. This anomaly is not thought to be hereditary, but the recurrent risk is higher in diabetics’ women. If the woman diabetes is severe, the caudal regression syndrome malformation is also more severe.
Despite intensive investigation, the teratogenic factors in the pregnancy complicated by diabetes mellitus have not been precisely defined. Mills et all declared that anomalies in the offspring of women with diabetes mellitus could be related to glucose control. But insulin and hypoglycemia don’t have a teratogenic role. Animals studies have showed either that physic agents, elevated temperature, hypothermia, traumatism, X rays, chemotherapy, lithium, sulfamide, actinomycin, strychnine, arsenic and saponins can be responsible. Contrary, alcoholism is not responsible. Nutritional deficiency as zinc, hypovitaminosis-A should be responsible. Nevertheless, familial cases have been described, suggesting an autosomal dominant inheritance. The chromosome 6 would be responsible.

Pathogenesis: Classically, it said that caudal regression syndrome results from a defect in the mid-posterior axis mesoderm of the embryo and originates before the 4th weeks, causing an absence or dysplasia of the sacrum and the other associated anomalies. Nevertheless according to Kubryk, two mechanism can be responsible of caudal regression syndrome:
Absence of development of the caudal bud with mesenchymatisation anomaly. The caudal regression syndrome resulted form the absence of development of the mesoblastic caudal bud.
Accentuation of the normal processus of appendices caudal regression (with last somites disparities). The consequences are that disruption of the maturation of the caudal portion of the spinal cord complex prior to 4th weeks, leading to motricity deficits and neurologic impairment, varying from to incontinence of urine and feces to complete neurologic loss. 

Sonographic findings: The sonographic findings of caudal regression syndrome are variable and depend on the extent and the severity of the defects. Severe forms of caudal regression syndrome may include sacral agenesis, vertebral and spinal cord agenesis, pelvic deformation and hypoplasia, femoral hypoplasia, talipes equinovarus, muscular atrophy of the lower extremities. Flexion, contractures of the knee and webbing can also be present. 

A complete absence of the sacrum: is often associated with abnormalities of the lumbar spine and the lower extremities.
Decreased movement of the legs is frequently observed.
Simple anomalies of the sacrum: without associated minor defects. Minor forms may not be recognized until childhood.
Nevertheless, the most typical findings are the absence of vertebrae, the shield like appearance of the fused or approximated iliac wings and the decreased interspace between the femoral heads. 

Implications for targeted examinations: About sonographic study:

  • During the first trimester: we must think about ca