Bruck Syndrome: Beyond the Obvious.

Christine Thuy-Trang Tran1, Maria-Elisabeth Smet2, Jonathan Forsey3

  • 1Obstetrics and Gynaecology, Westmead Hospital, Westmead, New South Wales, Australia.

Summary

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.

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