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- W2152253904 abstract "A 45-year-old woman gravida 3 para 2 with normal nuchal translucency and normal karyotype was referred because of short femora at 22 weeks of gestation (WG). Ultrasound showed short long bones below the 1st centile, femora and tibiae bowing, large metaphyses and large metopic suture with normal thorax, rachis, head circumference and biparietal diameter. Three dimensional ultrasound (3D) showed femora and tibia bowing, hyperechogenic diaphyses mainly at the concave site of the femur and hypoechogenic, large, irregular metaphyses, little lumbar vertebral bodies, large metopic with a ≪ V form ≫. Three dimensional helicoidal computed tomography (3D CT) confirmed the short bowing femora with diaphysal hyperdensity and metaphysal hypodensity with normal rachis, vertebra, and iliac wings. The diagnosis was an early and severe metaphysal osteochondrodysplasia and termination of pregnancy was performed at 26 WG. Pathological examination showed a female fetus with a slight dysmorphy, poorly ossified skull, short limbs with incurvated inferior limbs. The thorax was normal. X-rays showed short long bones, bowed femora and tibiae, internal diaphysal cortical thickening, large, irregular and radiolucent metaphyses. Ribs, vertebra and iliac wings were normal. Microscopic examination showed an irregular chondro-osteous junction with irregular primary trabeculae and an excess of osteoclastic resorption. These features are characteristic of Stüve-Wiedemann syndrome which is an autosomal recessive disorder associated early lethality due to LIFR mutations on 5p13.1. This case illustrates the difficulty of an accurate diagnosis of antenatal short bowing femora, the contribution of 3D ultrasound and 3D CT and the importance of pathological correlations." @default.
- W2152253904 created "2016-06-24" @default.
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- W2152253904 date "2005-09-01" @default.
- W2152253904 modified "2023-10-16" @default.
- W2152253904 title "P04.02: Prenatal 2D and 3D ultrasound of Stüve-Wiedemann syndrome" @default.
- W2152253904 doi "https://doi.org/10.1002/uog.2313" @default.
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