Bruck Syndrome: Beyond the Obvious.
| Autor: | Tran CT; Obstetrics and Gynaecology, Westmead Hospital, Westmead, New South Wales, Australia., Smet ME; Westmead Institute of Maternal Fetal Medicine, Obstetrics and Gynaecology, Westmead Hospital, Westmead, New South Wales, Australia., Forsey J; Paediatric and Fetal Cardiologist, Heart Centre for Children, The Children's Hospital at Westmead, Westmead, New South Wales, Australia., Zankl A; Clinical Geneticist, The Children's Hospital at Westmead, Westmead, New South Wales, Australia., Nayyar R; Westmead Institute of Maternal Fetal Medicine, Obstetrics and Gynaecology, Westmead Hospital, Westmead, New South Wales, Australia. |
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| Jazyk: | angličtina |
| Zdroj: | Fetal diagnosis and therapy [Fetal Diagn Ther] 2022; Vol. 49 (11-12), pp. 479-485. Date of Electronic Publication: 2022 Dec 07. |
| DOI: | 10.1159/000527594 |
| Abstrakt: | Introduction: Bruck syndrome is a rare autosomal recessive disease characterized by multiple joint contractures, bone fragility, and fractures. Two genes have been associated with Bruck syndrome, FKBP10 and PLOD2, though they are phenotypically indistinguishable. Case Presentation: We present a prenatally diagnosed case of Bruck syndrome in a young multiparous woman, with no notable personal, family or obstetric history. A 12-week ultrasound raised the suspicion of short long bones, subsequently confirmed at 16 weeks. In addition, bilateral fixed flexion of the elbow, wrist, and knee joints as well as talipes was observed. Chromosomal SNP microarray 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 fetal 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. 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. (© 2022 S. Karger AG, Basel.) |
| Databáze: | MEDLINE |
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