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.
D000402:Airway Obstruction / Q000150:complications*; D004392:Dwarfism / Q000150:complications; D006333:Heart Failure / Q000209:etiology; D006801:Humans; D007223:Infant; D008099:Liver / Q000473:pathology*; D008297:Male; D009336:Necrosis; D010022:Osteopetrosis / Q000150:complications*; D010160:Palate, Soft / Q000002:abnormalities; D011660:Pulmonary Heart Disease / Q000209:etiology*; D013577:Syndrome