Inherited cause of in utero digital malformations

Catherine Gooch, Caitlin Wright, Katherine Nelson, Nathaniel Robin

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Article numbere232020
JournalBMJ Case Reports
Volume13
Issue number3
DOIs
StatePublished - Mar 24 2020
Externally publishedYes

Keywords

  • congenital disorders
  • genetics
  • orthopaedics
  • paediatrics

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