title: A new form of metaphyseal chondrodysplasia in two sibs: surgical treatment of tracheobronchial malacia and scoliosis.
abstract: We describe a 19-year-old male with a previously unrecognized form of disproportionate short stature, tracheobronchial malacia, and progressive scoliosis and his 28-year-old sister with the same but milder condition. The clinical characteristics were short limbs and digits and thoracolumbar scoliosis. Bone films showed progression from marked metaphyseal dysplasia of tubular bones in childhood to short and broad bones with mild dysplasia of the joints in adulthood. The vertebrae and the intervertebral plates were only mildly affected in spite of marked scoliosis. Trachea and bronchi were reinforced with surrounding acrylate mesh before surgical treatment of the scoliosis. Affected sibs of both sexes and healthy parents suggest an autosomal recessive mode of inheritance.
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D000328:Adult; D001980:Bronchi / Q000002:abnormalities* / Q000601:surgery; D005097:Exostoses, Multiple Hereditary / Q000000981:diagnostic imaging / Q000235:genetics*; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D008297:Male; D011859:Radiography; D012600:Scoliosis / Q000151:congenital* / Q000601:surgery; D014132:Trachea / Q000002:abnormalities* / Q000601:surgery