title: [Lethal osteogenesis imperfecta. Prenatal diagnosis].
abstract: BACKGROUND
  Osteogenesis imparfecta (OI) comprises a group of disorders principally affecting type I collagen, which result in increased bone fragility. Lethal forms are rare and are characterised by micromelia with malformation of the limbs.
  
  
  METHODS
  A prenatal diagnosis of lethal OI was made by ultrasonography at 18 weeks of gestation and therapeutic abortion was indicated.
  
  
  CONCLUSIONS
  Molecular biology and genetic studies offer new possibilities of prenatal diagnosis, but ultrasonography remains the investigation of choice. It confirms the diagnosis by revealing an increase in bone transparency.
authors.affiliation: Service de gynécologie-obstétrique, Hôpital régional de Maharès, Tunisie. drdhouib_mounir@yahoo.fr
authors.forename: M
authors.initials: M
authors.lastname: Dhouib
authors.forename: N
authors.initials: N
authors.lastname: Guirat
mesh_terms: D000032:Abortion, Therapeutic; D000328:Adult; D000649:Amniocentesis; D003094:Collagen / Q000235:genetics; D024042:Collagen Type I / Q000235:genetics; D000090602:Collagen Type I, alpha 1 Chain; D005260:Female; D005817:Genetic Counseling; D006801:Humans; D009154:Mutation / Q000235:genetics; D010013:Osteogenesis Imperfecta / Q000145:classification / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics; D010375:Pedigree; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D013796:Thanatophoric Dysplasia / Q000235:genetics; D016216:Ultrasonography, Prenatal / Q000379:methods
chemical_list: D024042:Collagen Type I; D000090602:Collagen Type I, alpha 1 Chain; D003094:Collagen