Gambaran Radiologi untuk Deteksi Prenatal Osteogenesis Imperfecta
DOI:
https://doi.org/10.55175/cdk.v45i6.771Keywords:
Osteogenesis imperfecta, prenatal sonographic gapAbstract
Osteogenesis imperfecta (OI) adalah kelainan heterogen genetik tulang dan jaringan ikat yang disebabkan mutasi dominan gen kolagen tipe I, COL1A1, dan COL1A2. Pemeriksaan radiologi masih menjadi alat skrining pertama untuk menentukan evaluasi genetik prenatal dini.
Osteogenesis imperfecta (OI) is a genetic heterogenous disorder of bone and connective tissue caused by dominant mutation in collagen type I genes, COL1A1, and COL1A2. Radiological examination remains to be the first screening tool for early prenatal genetic evaluation.
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