Cor pulmonale and acute liver necrosis, due to upper airway obstruction as part of pycnodysostosis
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A male patient with pycnodysostosis suffered from chronic respiratory insufficiency and pulmonary hypertension. This was caused by concomitant upper airway obstruction, resulting from a low implanted uvula and a long soft palate, in combination with glossoptosis and retrognathia due to the flattened mandibular angles. An inter-current respiratory infection gave rise to an acute deterioration, with right-sided heart failure, severe liver damage and coma. Surgical shortening of the soft palate was performed, after which the blood gas values returned to normal.
Key wordsUpper airway obstruction Pulmonary hypertension Right-sided heart failure Pychodysostosis Childdren
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