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Bruck Syndrome: Beyond the Obvious.
Christine Thuy-Trang Tran1, Maria-Elisabeth Smet2, Jonathan Forsey3
1Obstetrics and Gynaecology, Westmead Hospital, Westmead, New South Wales, Australia.
This study reports the first prenatal diagnosis of Bruck syndrome using chromosomal microarray analysis, identifying a novel genetic deletion. The case highlights the importance of detailed fetal assessments for managing this rare bone fragility disorder.
Area of Science:
- Medical Genetics
- Prenatal Diagnosis
- Skeletal Dysplasias
Background:
- Bruck syndrome is a rare autosomal recessive disorder.
- Characterized by joint contractures, bone fragility, and fractures.
- Previously associated with FKBP10 and PLOD2 genes.
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