Abstract
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.
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Aronson, D.C., Heymans, H.S.A. & Bijlmer, R.P.G.M. Cor pulmonale and acute liver necrosis, due to upper airway obstruction as part of pycnodysostosis. Eur J Pediatr 141, 251–253 (1984). https://doi.org/10.1007/BF00572773
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DOI: https://doi.org/10.1007/BF00572773