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Start Over Author "DODERO, D." Journal american journal of medical genetics

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1. Prenatal diagnosis of thanatophoric dysplasia at 24 weeks.

Author

Camera G, Dodero D, and De Pascale S

Subjects
Adult, Dwarfism diagnostic imaging, Dwarfism genetics, Female, Humans, Male, Pregnancy, Radiography, Ultrasonography, Dwarfism diagnosis, Prenatal Diagnosis
Abstract

We report making the prenatal diagnosis of thanatophoric dysplasia at 24 weeks gestation. The ultrasound examination showed short limbs. By in utero radiological study, we could see the typical changes of this skeletal dysplasia. Radiological and histological studies confirmed the aborted fetus to be affected with thanatophoric dysplasia.

Published
1984
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