TY - JOUR
T1 - Congenital lumbar hernia–A feature of diabetic embryopathy?
AU - Stevens, Cathy A.
AU - Hogue, Jacob S.
AU - Hopkin, Robert J.
AU - Lombardo, Rachel C.
AU - Schrier Vergano, Samantha A.
N1 - Publisher Copyright:
© 2018 Wiley Periodicals, Inc.
PY - 2018/11
Y1 - 2018/11
N2 - 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.
AB - 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.
KW - abdominal wall defect
KW - congenital lumbar hernia
KW - diabetic embryopathy
KW - lumbocostovertebral syndrome
KW - maternal diabetes
KW - preaxial hallucal polydactyly
KW - renal agenesis
KW - vertebral anomaly
UR - http://www.scopus.com/inward/record.url?scp=85054156861&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85054156861&partnerID=8YFLogxK
U2 - 10.1002/ajmg.a.40381
DO - 10.1002/ajmg.a.40381
M3 - Article
C2 - 30276953
AN - SCOPUS:85054156861
SN - 1552-4825
VL - 176
SP - 2243
EP - 2249
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
IS - 11
ER -