Ultrasonographic features in a case of heterozygous achondroplasia at 25 weeks' gestation |
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| Authors: | Massimo Cordone Mario Lituania Giancarlo Bocchino Ubaldo Passamonti Paolo Tomà Gianni Camera |
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| Affiliation: | 1. Divisione di Ostetricia e Ginecologia, Genova, Italy;2. Servizio di Radiologia, I.R.C.C.S. ‘G. Gaslini’, Genova, Italy;3. Centro Regionale di Genetica Umana, Ospedale Galliera, Genova, Italy |
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| Abstract: | Prenatal diagnosis of heterozygous achondroplasia at 25 weeks is described. First-level fetal ultrasonography demonstrated short long bones of the lower limbs. Second-level examination showed a large head; shortened femur, fibula, and tibia; a ‘trident’-shaped hand; and an abnormal facial profile. |
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| Keywords: | Prenatal diagnosis Ultrasound Achondroplasia |
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