Ultrasonic demonstration of fetal skeletal dysplasia. Case reports.
Reports on prenatal diagnosis in cases of skeletal dysplasia have mostly been in high-risk mothers with a suspect genetic background where the fetal lesion could probably be predetermined. We deal with routine ultrasonographic appraisal of the fetal skeleton when dysplasia is not initially suspected, and relate our experience of the lethal forms of this condition. During the 4-year period 1981-1984, 6 cases of skeletal dysplasia, including thanatophoric dysplasia, achondrogenesis, the Ellis-van Creveld syndrome (chondro-ectodermal dysplasia) and osteogenesis imperfecta, were detected; the ultrasonographic findings are discussed.
D001848:Bone Diseases, Developmental / Q000175:diagnosis*; D004392:Dwarfism / Q000175:diagnosis; D004613:Ellis-Van Creveld Syndrome / Q000175:diagnosis; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis*; D006801:Humans; D010013:Osteogenesis Imperfecta / Q000175:diagnosis; D011247:Pregnancy; D011296:Prenatal Diagnosis; D013796:Thanatophoric Dysplasia / Q000175:diagnosis; D014463:Ultrasonography