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Full-term female neonate with rhizomelia and respiratory distress at birth. We performed a chest x-ray (Fig. 1) before starting non-invasive ventilation and the diagnosis was immediately suspected. An x-ray of the entire skeleton reinforced the diagnostic suspicion (Fig. 2).
AP chest radiograph
AP radiograph of the entire skeleton
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The diagnosis can be found at doi:10.1007/s00256-016-2537-x
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Maines, E., Baggio, L., Gugelmo, G. et al. Newborn with rhizomelia and difficulty breathing. Skeletal Radiol 46, 231 (2017). https://doi.org/10.1007/s00256-016-2536-y
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DOI: https://doi.org/10.1007/s00256-016-2536-y