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- W4295774443 abstract "Mrs. I N, 39 years old, family medical history: no dwarfism or other congenital diseases; without any Personal medical history no medication Atcds G/O married since 2000, two healthy children, one medical termination of gestation for hydrocephalus with a normal amniocentesis in 2000, currently pregnant at 17SA2J, monitored privately, the ultrasound made at 12 weeks of gestation showed a nuchal translucency at 2.9, a craniocaudal length of 63 mm, triple test 1/29, echo at 17SA: Malformative syndrome: Hypertelorism, narrow thorax in champagne cork short limbs, prominent abdomen, FL/foot = 0.4, bilateral pyelectasis, micromelia, femoral fracture trophoblast biopsy: inconclusive; amniocentesis: karyotype 46.XX without abnormalities. The decision was to perform a medical termination of the pregnancy by Caesarean section the fetus had obvious macroscopic malformations: microretrognatism, rhizomelic micromelia, narrow thorax, prominent abdomen, arm fracture. X-ray of the skeleton shows multiple fractures at the level of the limbs which are deformed and angulated, ribs in a thin string, cortex of thin bones. Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article." @default.
- W4295774443 created "2022-09-15" @default.
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- W4295774443 date "2022-09-01" @default.
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- W4295774443 title "EP41.05: Osteogenesis imperfecta" @default.
- W4295774443 doi "https://doi.org/10.1002/uog.25867" @default.
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