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.
Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
