case_images: PMC10565417_01
case_images: Pedigree (Arrow indicates the person tested).
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case_images: The mother had a personal and family history of clavicle fracture ( Figure 1).
case_images: Ultrasound findings.. A) Ulna with altered morphology. Arrow indicates a point fracture, B) Ribs that exceed the middle of the thorax, C) multiple rib fractures. D) Deformation of fetal head and cranial fractures can also be observed.
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case_images: f2
case_images: Figure 2A), and continuity solution, in addition to femur length/abdominal circumference=0.11. Fractures were also found at the level of the femur, tibia, fibula, ulna, and ribs ( Figure 2B, C) and at the cephalic level there was a skull deformity on pressure echocardiography and cranial fractures ( Figure 2D).
case_images: Radiographs from proband which presented hypomineralization and lack of growth of the long bones.
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case_images: f3
case_images: After 9 prenatal controls in the institution, an elective cesarean section was scheduled at 38 weeks and 6 days, delivering a female newborn with a weighi of 3.330 kg, height 43cm, head circumference 34.5cm, chest circumference 34cm, APGAR 5 at minute, 6 at 5 minutes, and 7 at 10 minutes, associated with respiratory distress, which required endotracheal intubation and hospitalization in the neonatal intensive care unit (NICU) ( Figure 3).