Bruck Syndrome: Beyond the Obvious.

INTRODUCTION: Bruck Syndrome is a rare autosomal recessive disease characterised by multiple joint contractures, bone fragility and fractures. Two genes have been associated with Bruck Syndrome, FKBP10 and PLO2, though they are phenotypically indistinguishable.

CASE PRESENTATION: We present a prenatally diagnosed case of Bruck Syndrome in a young multiparous woman, with previous healthy children. A 12-week ultrasound raised the suspicion of short long bones, which was subsequently confirmed at 16 weeks. In addition, bilateral fixed flexion of the elbow, wrist, and knee joints as well as talipes were observed. Chromosomal SNP micro-array analysis (0.2 Mb) detected a homozygous deletion at chromosome 3, band q24, involving a part of PLOD2 to a part of PLSCR4. At mid-trimester morphology, bilateral intrauterine fractures of the humerus and femur were evident. In the late third trimester, a foetal echocardiogram noted enlargement of the right heart with severe tricuspid regurgitation in combination with pulmonary insufficiency and a restrictive arterial duct. The potential risk of premature closure of the ductus arteriosus near term, led to delivery by emergency caesarean section.

DISCUSSION/CONCLUSION: To our knowledge, this is the first case of Bruck Syndrome prenatally confirmed by chromosomal microarray analysis and the second reported case with an extra-skeletal abnormality. This case highlights the importance of comprehensive fetal morphological assessment during pregnancy, as diagnosis of an additional abnormality has the potential to impact both management and prognosis.