Caudal regression syndrome is a rare congenital malformation with varying degrees of early gestational developmental failure. It is also known as sacral agenesis or caudal dysplasia. The cause of this malformation is thought to be defects in neuralization around the 28th day of the gestational period. Although maternal uncontrolled diabetes, genetic predisposition and vascular hypoperfusion are...

Oculoauriculovertebral spectrum, or Goldenhar Syndrome, is a condition characterized by variable degrees of uni- or bilateral involvement of craniofacial structures, ocular anomalies, and vertebral defects. Its expressivity is variable; therefore, the term "expanded Goldenhar complex" has been coined. The Goldenhar Syndrome usually involves anomalies in craniofacial structures, but it is known ...

PURPOSE To evaluate the spectrum of developmental anomalies observed in patients with the caudal regression syndrome and relate them to the pathogenesis of this syndrome. METHODS Nineteen children with caudal regression were investigated with MR. RESULTS The level of vertebral agenesis varied from T-11 to S-5. In 9 of the 19 children the characteristic high-ending wedge-shaped cord terminus...

Imaging studies from 13 patients with caudal regression were reviewed retrospectively to assess the spectrum and findings of this anomaly. Seven patients were evaluated with MR and six with myelography (supplemented with CT in three). The level of regression varied from T9 to the coccyx. Although osseous abnormalities were more readily identified and characterized by CT, MR effectively depicted...

A family is reported which a diabetic woman gave birth to two children with the caudal regression anomalad (CRA). There were no obvious genetic factors. This is the first reported familial case of CRA with maternal diabetes.