Prenatal Diagnosis Of Osteogenesis Imperfecta: A Case Report

‹ncim Bezircio¤lu, Merve Biçer, Dilek Uysal, Seyran Yi¤it, Ali Balo¤lu
2006 Perinatal Journal •   unpublished
Osteogenesis imperfecta is a heterogeneous group of genetic disorders characterized by severe bone fragility, abnormal ossification and multiple fractures. We report here a terminated case of osteogenesis imperfecta diagnosed with obstetric ultrasonography during sixteenth week of pregnancy. Case: A 19 year-old gravida 2, para 1 patient was referred to our institution following a secreening ultrasound which demonstrated skeletal anomalies of the fetus. Sonographic evaluation revealed that all
more » ... revealed that all long bones were short and angulated with multiple fractures, the chest was narrow and bell-shaped, the echogenity of the skull was decreased and visualization of the intracra-nial structures were increased. Termination of the pregnancy was decided due to the ultrasonographic findings predicting lethal-ity. The diagnosis of Osteogenezis Imperfecta type II was confirmed by postmortem radiography and autopsy examination. Conclusion: Today with the advances in obstetric ultrasonography, the early prenatal diagnosis of lethal skeletal dysplasias is possible. In existence of ultrasonographic findings predicting lethality, the choice of termination should be offered to parents after giving a detailed information about the fetal prognosis even if the true ultrasonographic diagnosis is not available. Amaç: Osteogenezis imperfekta kollagen maturasyonunda defekt nedeniyle kemik k›r›lganl›¤›nda art›fl, anormal kemikleflme ve çok say›da k›r›klarla karakterize heterojen bir genetik hastal›kt›r. Bu çal›flmada gebeli¤in 16. haftas›nda yap›lan obstetrik ultraso-nografi ile tan›s› konularak sonland›r›lan bir Osteogenezis imperfecta olgusu sunulmufltur. Olgu: 19 yafl›nda gravida 2, parite1 olan olgu gebeli¤in 16. haftas›nda yap›lan ultrasonografisinde fetal iskelet anomalisi saptan-mas› üzerine klini¤imize refere edildi. Olgunun yap›lan prenatal 2. düzey ultrasonografisinde tüm ekstremitelerde uzun kemikle-rin k›sa bükülmüfl ve çok say›da k›r›k içerdi¤i, gö¤üs kafesinin k›sa dar oldu¤u, ayr›ca kafatas›n›n düflük ekodansitede olup kafa içi yap›lar›n ola¤andan daha net görüldü¤ü saptand›. Letaliteyi gösteren ultrasonografi bulgular› nedeniyle gebeli¤in terminasyo-nuna karar verildi. Postnatal radyografi ve otopsi bulgular›yla Osteogenezis imperfekta tip II tan›s› kondu. Sonuç: Günümüzde obstetrik ultrasonografideki geliflmelerle ölümcül iskelet displazilerinin erken prenatal tan›s› mümkün olabil-mektedir. Spesifik ultrasonografik tan› konulamasa bile letaliteyi öngören ultrasonografik belirteçlerin varl›¤›nda aileye fetal prog-noz hakk›nda bilgi verilerek terminasyon seçene¤i sunulmal›d›r.
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