Sacral agenesis with associated anomalies (caudal regression syndrome): autopsy case report.
Autopsy findings of an infant with sacral agenesis and multiple anomalies of the lower half of the body which fit the description of the caudal regression syndrome are reported. The lumbosacral plexus of nerves was more abundant on one side despite symmetrical lumbar vertebral dysgenesis with agenesis below S1. The presence of intrathecal kidney tissue has not been previously reported in this syndrome. Diethylopropion hydrochloride, an appetite supressant, which was ingested by the patient's mother during the first month of pregnancy, was cited as a possible etiologic agent.
D000015:Abnormalities, Multiple / Q000209:etiology / Q000473:pathology*; D004053:Diethylpropion / Q000009:adverse effects; D005835:Genitalia / Q000002:abnormalities; D006801:Humans; D007231:Infant, Newborn; D007668:Kidney / Q000196:embryology; D007866:Leg / Q000002:abnormalities; D012447:Sacrum / Q000002:abnormalities*; D013116:Spinal Cord / Q000002:abnormalities* / Q000473:pathology
D004053:Diethylpropion