Patient presentation: A 48-year-old woman with Melnick-Needles Syndrome (MNS, a congenital bony dysplasia) was referred because of
progressive breathlessness and exertional presyncope.
She described 12 months of progressive exertional dyspnea with reduced exercise tolerance. She could walk just 10 m on the flat and found
her office-based job unmanageable. There were features of exertional presyncope but no collapse, chest pain, cough, or palpitations. She reported
an inability to sleep supine, nocturia, morning headaches, and poor-quality, unrefreshing sleep.
She had snored since childhood, improving after micrognathia surgery
in her 20s. Smoking history was modest: a 3 pack-year exposure quitting a
decade earlier. She consumed minimal alcohol and no recreational drugs.
She took no regular medication and reported no recent foreign travel.
Aside from MNS, she had no other notable history.