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• W1972335112 abstract "Campomelic dysplasia (CD) is a rare skeletal dysplasia characterized by marked femoral and tibial angulations, hypoplasic scapulae, normal upper limbs and sex reversal in 3/4 of 46,XY fetuses. Most cases are lethal in the neonatal period. Heterozygous mutations in the SOX9 gene are responsible for CD. The diagnosis is not usually made until the mid-second trimester or later.We describe 2 cases of CD suspected by ultrasonography in the first trimester.The 2 cases presented with hygroma colli along with anomalies in the lower but not the upper limbs. Terminations of pregnancy were obtained at 14+3 and 20+6 gestational weeks. Fetopathological examinations confirmed sonographic findings.When first trimester hygroma colli is accompanied by specific findings of the lower limbs, the diagnosis of CD can be investigated through SOX9 mutation analysis." @default.
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• W1972335112 date "2008-01-01" @default.
• W1972335112 modified "2023-10-18" @default.
• W1972335112 title "Campomelic Dysplasia: Echographic Suspicion in the First Trimester of Pregnancy and Final Diagnosis of Two Cases" @default.
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• W1972335112 doi "https://doi.org/10.1159/000176299" @default.
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