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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.<\/jats:p>","DOI":"10.1002\/ajmg.a.40381","type":"journal-article","created":{"date-parts":[[2018,10,2]],"date-time":"2018-10-02T05:14:55Z","timestamp":1538457295000},"page":"2243-2249","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Congenital lumbar hernia\u2013A feature of diabetic embryopathy?"],"prefix":"10.1002","volume":"176","author":[{"given":"Cathy A.","family":"Stevens","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Division of Medical Genetics The University of Tennessee College of Medicine  Chattanooga Tennessee"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0435-5197","authenticated-orcid":false,"given":"Jacob S.","family":"Hogue","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Madigan Army Medical Center  Tacoma Washington"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0770-5516","authenticated-orcid":false,"given":"Robert J.","family":"Hopkin","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Cincinnati Children's Hospital  Cincinnati Ohio"},{"name":"Deparment of Pediatrics University of Cincinnati College of Medicine  Cincinnati Ohio"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4810-4779","authenticated-orcid":false,"given":"Rachel C.","family":"Lombardo","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Cincinnati Children's Hospital  Cincinnati Ohio"},{"name":"Deparment of Pediatrics University of Cincinnati College of Medicine  Cincinnati Ohio"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9194-0644","authenticated-orcid":false,"given":"Samantha A.","family":"Schrier Vergano","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics and Metabolism Children's Hospital of the King's Daughters  Norfolk Virginia"},{"name":"Department of Pediatrics Eastern Virginia Medical School  Norfolk Virginia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2018,10]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/bdra.20503"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpedsurg.2007.08.065"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3468(96)90251-1"},{"key":"e_1_2_8_5_1","first-page":"694","article-title":"Assessment of diaphragm function in lumbocostovertebral syndrome","volume":"163","author":"Bhat R. 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