[Prenatal diagnosis of thanatophoric dysplasia at 21st week of pregnancy].
We report making the prenatal diagnosis of thanatophoric dysplasia without "cloverleaf" skull at 21 weeks gestation. The ultrasound examination showed short and bowed limbs, narrow thorax, and large head. Radiological and histological studies confirmed the aborted fetus to be affected with thanatophoric dysplasia. The differential prenatal diagnosis with other skeletal dysplasias is discussed.
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Centro di genetica umana, Ospedali Galliera di Genova, Italia.
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D000328:Adult; D005260:Female; D006801:Humans; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D013796:Thanatophoric Dysplasia / Q000000981:diagnostic imaging*; D016216:Ultrasonography, Prenatal
Diagnosi prenatale di displasia tanatofora alla 21a settimana di gravidanza.