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Journal of Medical Genetics 1993;30:875-876; doi:10.1136/jmg.30.10.875
Copyright © 1993 by the BMJ Publishing Group Ltd.

Airway abnormalities in Jarcho-Levin syndrome: a report of two cases.

M Schulman, M T Gonzalez, M R Bye

Department of Pediatrics, Albert Einstein College of Medicine, Bronx, New York.

Two infants with the Jarcho-Levin syndrome of vertebral anomalies underwent flexible fibre optic bronchoscopy. Central airway abnormalities not amenable to surgical correction were found in both patients. These abnormalities may contribute significantly to the respiratory failure seen in affected infants, and should be considered when evaluating continuing medical support.


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