Schulman M, Gonzalez M T, Bye M R
Department of Pediatrics, Albert Einstein College of Medicine, Bronx, New York.
J Med Genet. 1993 Oct;30(10):875-6. doi: 10.1136/jmg.30.10.875.
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.
两名患有脊椎异常的贾尔乔-莱文综合征的婴儿接受了可弯曲纤维支气管镜检查。在两名患者中均发现了无法通过手术矫正的中央气道异常。这些异常可能是导致受影响婴儿出现呼吸衰竭的重要原因,在评估持续医疗支持时应予以考虑。