Typical clinical findings in patients with
achondroplastic dwarfism may be absent in patients with Kowarski syndrome
who have been treated with exogenous growth hormone. Neurological findings in
achondroplastic dwarfs include foramen magnum stenosis and odontoid
hypoplasia causing spinal cord compression, central sleep apnea, and obstructive
hydrocephalus. Facial features are short maxilla, large tongue, and flat nose, which may
predispose to obstructive sleep apnea. Pulmonary hypertension and cor
pulmonale secondary to kyphoscoliosis and sleep apnea have been reported.