Prenatal counselling and diagnosis in progressively deforming osteogenesis imperfecta: a case of autosomal dominant transmission.

@article{Phillips1991PrenatalCA,
  title={Prenatal counselling and diagnosis in progressively deforming osteogenesis imperfecta: a case of autosomal dominant transmission.},
  author={Owen P. Phillips and Lee P Shulman and L A Altieri and Robert S. Wilroy and Donald S Emerson and Jennifer Dacus and Sherman Elias},
  journal={Prenatal diagnosis},
  year={1991},
  volume={11 9},
  pages={705-10}
}
A 21-year-old woman with progressively deforming or type III osteogenesis imperfecta (OI) presented for prenatal counselling and diagnosis at 10 weeks' gestation. Family history was non-contributory. At 14.8 weeks' gestation, ultrasonographic examination revealed fetal skeletal hypomineralization, easily compressible fetal cranium, and thickened long bones, indicating that the fetus was also affected. Confirmation of the prenatal diagnosis of OI type III was made following a Caesarean section… CONTINUE READING