Inherited cause of in utero digital malformations
Catherine Gooch1, Caitlin Wright1, Katherine Nelson1
1Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA.
BMJ Case Reports
|March 27, 2020
Summary
Amniotic band sequence (ABS) may be linked to vascular Ehlers-Danlos syndrome (vEDS). This case suggests vEDS-weakened amnions might contribute to ABS formation, supporting the extrinsic theory.
Area of Science:
- Genetics
- Developmental Biology
- Obstetrics
Background:
- Amniotic band sequence (ABS) is a congenital defect with unclear etiology.
- Ehlers-Danlos syndrome, vascular type (vEDS) is an inherited connective tissue disorder.
Observation:
- A case of ABS is presented in a child with paternally inherited vEDS.
- This is the third reported association between ABS and paternally inherited vEDS.
Findings:
- The case supports the extrinsic theory of ABS formation.
- It suggests that fetal components, specifically an amnion weakened by vEDS, may play a role in ABS development.
Implications:
- This finding deepens the understanding of ABS pathogenesis.
- It highlights a potential genetic link between vEDS and ABS, informing future research and clinical observations.
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