PMC6243348_01
Prenatal ultrasound at 22 6/7 weeks gestational age demonstrates short femurs measuring 3.5 cm (< 2.5%).
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fig1
Follow-up ultrasound at 22 weeks gestation again demonstrated short femurs, measuring 3.5 cm (< 2.5%) (Figure 1).
Skeletal survey demonstrates diffuse demineralization of bony structures and relatively short humeri and femora.
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The humerus demonstrates poorly formed and irregular appearing proximal metaphyses and profound diaphyseal cloaking. The forearm demonstrates unusual bowing of the distal ulna and radius with metaphyseal cupping.
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The pelvis demonstrates poorly formed iliac bones with flattening of the acetabular roofs and irregular appearing proximal femoral metaphyses with periosteal cloaking.
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fig4