Cor pulmonale and acute liver necrosis, due to upper airway obstruction as part of pycnodysostosis.

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.