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Bruck syndrome: a rare cause of reduced fetal movements
- Source :
- BMJ case reports. 14(12)
- Publication Year :
- 2023
-
Abstract
- Bruck syndrome is an autosomal recessive disease characterised by the clinical combination of both osteogenesis imperfecta and arthrogryposis multiplex congenita (AMC). It is caused due to collagen miss-folding and cross-linking defect resulting from a deletion in FKBP10 (OMIM #259450) and/or PLOD2
- Subjects :
- musculoskeletal diseases
congenital, hereditary, and neonatal diseases and abnormalities
Pathology
medicine.medical_specialty
Arthrogryposis multiplex congenita
business.industry
Reduced fetal movements
General Medicine
Osteogenesis Imperfecta
medicine.disease
eye diseases
Fetal Diseases
Osteogenesis imperfecta
medicine
Humans
skin and connective tissue diseases
business
Fetal Movement
Bruck syndrome
Subjects
Details
- ISSN :
- 1757790X
- Volume :
- 14
- Issue :
- 12
- Database :
- OpenAIRE
- Journal :
- BMJ case reports
- Accession number :
- edsair.doi.dedup.....eb45c04e3fe703022af46fccef89ceca