title: [Lethal osteogenesis imperfecta: antenatal diagnosis].
abstract: Osteogenesis imperfecta (OI) is a heterogeneous group of diseases affecting type I collagen and characterized by bone fragility. Lethal forms are rare and are characterized by micromelia associated with limb deformities. We report two cases of prenatally diagnosed lethal OI. Patients underwent ultrasound examination at 17 and 25 weeks of amenorrhoea, supplemented with fetal skeletal CT scanning in one case. Therapeutic abortion was recommended in both cases.
authors.affiliation: Service d'Imagerie Médicale B, Centre de Maternité et de Néonatologie de Monastir, Université de Monastir, CHU Fattouma Bourguiba Monastir, Tunisie.
authors.forename: Houda
authors.initials: H
authors.lastname: El Mhabrech
authors.affiliation: Service d'Imagerie Médicale A, Université de Monastir, CHU Fattouma Bourguiba Monastir, Tunisie.
authors.forename: Ahmed
authors.initials: A
authors.lastname: Zrig
authors.affiliation: Service d'Imagerie Médicale B, Centre de Maternité et de Néonatologie de Monastir, Université de Monastir, CHU Fattouma Bourguiba Monastir, Tunisie.
authors.forename: Ines
authors.initials: I
authors.lastname: Mazhoud
authors.affiliation: Service d'Anatomopathologie, Université de Monastir- CHU Fattouma Bourguiba Monastir, Tunisie.
authors.forename: Leila
authors.initials: L
authors.lastname: Njim
authors.affiliation: Service de Gynécologie-Obstétrique, Centre de Maternité et de Néonatologie de Monastir, Université de Monastir, CHU Fattouma Bourguiba, Monastir, Tunisie.
authors.forename: Aouatef
authors.initials: A
authors.lastname: Hajjeji
authors.affiliation: Service de Gynécologie-Obstétrique, Centre de Maternité et de Néonatologie de Monastir, Université de Monastir, CHU Fattouma Bourguiba, Monastir, Tunisie.
authors.forename: Raja
authors.initials: R
authors.lastname: Faleh
authors.affiliation: Service d'Imagerie Médicale B, Centre de Maternité et de Néonatologie de Monastir, Université de Monastir, CHU Fattouma Bourguiba Monastir, Tunisie.
authors.forename: Ch
authors.initials: C
authors.lastname: Hafsa
mesh_terms: D000032:Abortion, Therapeutic; D000328:Adult; D005260:Female; D006801:Humans; D010013:Osteogenesis Imperfecta / Q000000981:diagnostic imaging*; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D011296:Prenatal Diagnosis / Q000379:methods*; D016216:Ultrasonography, Prenatal / Q000379:methods*
keywords: Lethal osteogenesis imperfecta; Pathology; antenatal diagnosis; fetal; skeletal CT scan; ultrasound