Restrictive chest bellows disease and frontometaphyseal dysplasia.
We describe a patient with frontometaphyseal dysplasia (FMD), restrictive chest bellows disease, hypercapnic respiratory failure, and cor pulmonale. Treatment with intermittent supplemental oxygen, nocturnal nasal volume ventilation, and posture modification was successful in partial resolution of chronic hypoventilation and excessive daytime somnolence.
Lipson
E
E
Sleep Disorders Center, Mount Sinai Medical Center, Miami Beach 33140.
Ahmed
T
T
Kiel
M H
MH
Chediak
A D
AD
D000015:Abnormalities, Multiple; D000328:Adult; D001848:Bone Diseases, Developmental / Q000150:complications*; D005147:Facial Bones / Q000002:abnormalities; D006801:Humans; D006935:Hypercapnia / Q000209:etiology; D008297:Male; D011660:Pulmonary Heart Disease / Q000209:etiology; D013902:Radiography, Thoracic; D012131:Respiratory Insufficiency / Q000000981:diagnostic imaging / Q000209:etiology* / Q000628:therapy; D012600:Scoliosis / Q000150:complications / Q000000981:diagnostic imaging; D012886:Skull / Q000002:abnormalities*