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Findings that shed new light on the possible pathogenesis of a disease or an adverse effect
Case report
Inherited cause of in utero digital malformations
  1. Catherine Gooch1,
  2. Caitlin Wright1,
  3. Katherine Nelson1 and
  4. Nathaniel Robin1,2
  1. 1Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA
  2. 2Department of Pediatrics, University of Alabama at Birmingham, Birmingham, Alabama, USA
  1. Correspondence to Dr Nathaniel Robin; nrobin{at}uabmc.edu

Abstract

Amniotic band sequence (ABS) is common birth defect of incompletely understood origin. Here we describe a case of ABS in a child with paternally inherited Ehlers-Danlos syndrome, vascular type (vEDS). This is the third reported instance of ABS associated with paternally inherited vEDS in the medical literature. The two main theories of ABS formation are the extrinsic and intrinsic. The extrinsic theory states that placental tears form fibrous cords that wrap around the fetus; the intrinsic states that poor vascularisation in the fetus leads to necrosis of distal extremities. We believe this case supports extrinsic theory as it shows that as an amnion weakened by vEDS in fetal components is associated with ABS.

  • genetics
  • congenital disorders
  • paediatrics
  • orthopaedics

https://doi.org/10.1136/bcr-2019-232020

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    Footnotes

    • Contributors CG and CW: manuscript writing and patient care. KN: patient care and dignostic discussion. NR: patient care, manuscrupt editing, expert advice, planning and diagnostic discussion.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Competing interests None declared.

    • Patient consent for publication Parental/guardian consent obtained.

    • Provenance and peer review Not commissioned; externally peer reviewed.