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Stevens, Cathy A.; Hogue, Jacob S.; Hopkin, Robert J.; Lombardo, Rachel C.; Schrier Vergano, Samantha A.
American journal of medical genetics. Part A, November 2018, 2018-Nov, 2018-11-00, 20181101, Letnik: 176, Številka: 11Journal Article
Congenital lumbar hernia is a rare anomaly consisting of protrusion of abdominal organs or extraperitoneal tissue through a defect in the lateral abdominal wall. The majority of affected patients have additional anomalies in a pattern described as the lumbocostovertebral syndrome. We report four patients born to mothers with poorly controlled diabetes with congenital lumbar hernia. All patients exhibited features of lumbocostovertebral syndrome with lumbar hernia, multiple vertebral segmentation anomalies in the lower thoracic and/or upper lumbar spine, rib anomalies, and unilateral renal agenesis. Additional anomalies present in the patients included preaxial hallucal polydactyly, abnormal situs, and sacral dysgenesis, anomalies known to be associated with diabetic embryopathy. At least 11 other patients have been previously reported with the lumbocostovertebral syndrome in the setting of maternal diabetes. We suggest that congenital lumbar hernia and the lumbocostovertebral syndrome are related to diabetic embryopathy.
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JCR | SNIP | JCR | SNIP | JCR | SNIP | JCR | SNIP |
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