Congenital lumbar hernia–A feature of diabetic embryopathy?

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 pat...

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Bibliographic Details
Published in:American journal of medical genetics. Part A 2018-11, Vol.176 (11), p.2243-2249
Main Authors: Stevens, Cathy A., Hogue, Jacob S., Hopkin, Robert J., Lombardo, Rachel C., Schrier Vergano, Samantha A.
Format: Article
Language:English
Subjects:
Abdominal wall
abdominal wall defect
congenital lumbar hernia
Diabetes
Diabetes mellitus
diabetic embryopathy
Hernia
lumbocostovertebral syndrome
maternal diabetes
Polydactyly
preaxial hallucal polydactyly
renal agenesis
Sacrum
Segmentation
Spine (lumbar)
Thorax
Vertebrae
vertebral anomaly
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Summary: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.
ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.40381