Review Question - QID 6119

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Sacral Agenesis QID: 6119 (SAE07PE.59)

QID 6119 (Type "6119" in App Search)

A full-term newborn has webbing at the knees, rigid clubfeet, a Buddha-like posture of the lower extremities, and no voluntary or involuntary muscle action at and below the knees. Radiographs of the spine and pelvis reveal an absence of the lumbar spine and sacrum. What maternal condition is associated with this diagnosis?

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Alcoholism

23%

108/478

Drug abuse

16%

75/478

Down syndrome

22/478

Diabetes mellitus

56%

266/478

Idiopathic scoliosis

3/478

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The history, physical examination, and radiographic findings are consistent with type IV sacral agenesis or caudal regression syndrome. These children are born with no lumbar spine or sacrum. The T12 vertebra is often prominent posteriorly. Popliteal webbing and knee flexion contractures are common with this diagnosis. There is a higher incidence of this diagnosis when the mother has diabetes mellitus. Maternal drug abuse and alcoholism can produce phenotypically unique children but without the findings described here. Maternal idiopathic scoliosis is not associated with caudal regression syndrome.