Congenital lumbar hernia–A feature of diabetic embryopathy?

Cathy A. Stevens, Jacob S. Hogue, Robert J. Hopkin, Rachel C. Lombardo, Samantha A. Schrier Vergano

Research output: Contribution to journalArticle

Abstract

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.

Original languageEnglish (US)
Pages (from-to)2243-2249
Number of pages7
JournalAmerican Journal of Medical Genetics, Part A
Volume176
Issue number11
DOIs
StatePublished - Nov 2018
Externally publishedYes

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Keywords

  • abdominal wall defect
  • congenital lumbar hernia
  • diabetic embryopathy
  • lumbocostovertebral syndrome
  • maternal diabetes
  • preaxial hallucal polydactyly
  • renal agenesis
  • vertebral anomaly

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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