title: Prenatal counselling and diagnosis in progressively deforming osteogenesis imperfecta: a case of autosomal dominant transmission.
abstract: 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 birth of a male infant with multiple skeletal deformities and blue sclerae implying, in this case, autosomal dominant inheritance.
authors.affiliation: Department of Obstetrics and Gynecology, University of Tennessee, Memphis 38163.
authors.forename: O P
authors.initials: OP
authors.lastname: Phillips
authors.forename: L P
authors.initials: LP
authors.lastname: Shulman
authors.forename: L A
authors.initials: LA
authors.lastname: Altieri
authors.forename: R S
authors.initials: RS
authors.lastname: Wilroy
authors.forename: D S
authors.initials: DS
authors.lastname: Emerson
authors.forename: J V
authors.initials: JV
authors.lastname: Dacus
authors.forename: S
authors.initials: S
authors.lastname: Elias
mesh_terms: D000328:Adult; D005260:Female; D005269:Femur / Q000002:abnormalities / Q000000981:diagnostic imaging; D005817:Genetic Counseling; D006801:Humans; D010013:Osteogenesis Imperfecta / Q000000981:diagnostic imaging*; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D011296:Prenatal Diagnosis; D011859:Radiography; D014463:Ultrasonography