Prenatal counselling and diagnosis in progressively deforming osteogenesis imperfecta: A case of autosomal dominant transmission
| Autor: | Owen P. Phillips, Donald S. Emerson, R. Sidney Wilroy, John V. Dacus, Sherman Elias, Lee P. Shulman, Lisa A. Altieri |
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| Rok vydání: | 1991 |
| Předmět: |
Adult
medicine.medical_specialty Genetic counseling Genetic Counseling Prenatal diagnosis Osteogenesis Imperfecta Type III Pregnancy Prenatal Diagnosis Humans Medicine Femur Genetics (clinical) Ultrasonography Dominance (genetics) Fetus business.industry Obstetrics Obstetrics and Gynecology Osteogenesis Imperfecta medicine.disease Surgery Radiography Pregnancy Trimester First Osteogenesis imperfecta Gestation Female business |
| Zdroj: | Prenatal Diagnosis. 11:705-710 |
| ISSN: | 1097-0223 0197-3851 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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