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Articles » Syndromes » Jarcho-Levin syndrome

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 leng