Prenatal counselling and diagnosis in progressively deforming osteogenesis imperfecta: A case of autosomal dominant transmission |
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| Authors: | Owen P. Phillips MD Lee P. Shulman Lisa A. Altieri R. Sidney Wilroy Donald S. Emerson John V. Dacus Sherman Elias |
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| Affiliation: | 1. Departments of Obstetrics and Gynecology, University of Tennessee, Memphis, Tennessee, U.S.A.;2. Radiology, University of Tennessee, Memphis, Tennessee, U.S.A.;3. Pediatrics, University of Tennessee, Memphis, Tennessee, U.S.A. |
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| 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. |
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| Keywords: | Prenatal diagnosis Osteogenesis imperfecta type III |
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