Gambaran Radiologi untuk Deteksi Prenatal Osteogenesis Imperfecta

Penulis

  • Inez Kartika Residen Departemen Radiologi Fakultas Kedokteran Universitas Udayana,Denpasar, Bali, Indonesia
  • Dewa Gde Mahiswara Suadiatmika Staf Departemen Radiologi Fakultas Kedokteran Universitas Udayana,Denpasar, Bali, Indonesia

DOI:

https://doi.org/10.55175/cdk.v45i6.771

Kata Kunci:

Osteogenesis imperfecta, prenatal sonographic gap

Abstrak

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.

Unduhan

Data unduhan belum tersedia.

Referensi

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Diterbitkan

2018-06-01

Cara Mengutip

Kartika, I., & Suadiatmika, D. G. M. (2018). Gambaran Radiologi untuk Deteksi Prenatal Osteogenesis Imperfecta. Cermin Dunia Kedokteran, 45(6), 446–448. https://doi.org/10.55175/cdk.v45i6.771

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