Clinical Analysis Of 78 Children With Congenital Dysplasia Of Airway Structure Combined With Chromosome/Gene Abnormalities

Objective: Explore the correlation between Congenital dysplasia of airway structure(CDOAS)and Chromosome/Gene abnormalities.Methods: The clinical data of children diagnosed with CDOAS and Chromosomal/Gene diseases from January 2010 to October 2020 in Children’s Hospital of Chongqing Medical University were retrospectively analyzed.Results: male: female = 17:9,the age range is 0-58 months(median 3months),most of them onset within 6 months of age(64.6%),mostly full-term infants and normal birth weight infants see.The common clinical symptoms are cough(71.8%),sputum expectoration/phlegm in the throat(67.9%),shortness of breath(59%),growth retardation(44.9%),and repeated respiratory infections(39.7%).Wheezing,throat stridor,Throat stridor is common.This study found a total of 7 types of CDOAS,single CDOAS(49 cases,62.8%),multiple CDOAS(29 cases,37.2%);congenital laryngeal chondrodysplasia(70 cases,89.7%),tracheomalacia(2 cases),and bronchomalacia(4 cases),airway stenosis(19cases,24.4%).31 cases of chromosomal diseases: 7 cases of CDOAS combined with Down syndrome,7 cases of CDOAS combined with cat barking syndrome;35 cases of disease-causing gene variants were identified: 10 cases of CDOAS combined with G-6-PD deficiency;5 cases of CDOAS combined with thalassemia,There were 3 cases of CDOAS combined with PWS,and 12 cases of CDOAS combined with genetic variants of unknown significance.Airway abnormalities in CCS included bronchial stenosis(1 case),tracheal stenosis(2 cases),and tracheal bronchus(1 case);Congenital laryngeal chondrodysplasia was more common in THAL(4 cases);PWS include congenital laryngeal chondrodysplasia(2 cases),bronchial stenosis(1 case).Conclusion: CDOAS combined with chromosomal/gene abnormalities are more prone to premature delivery and low birth weight.Children with clear CDOAS,combined with growth retardation,congenital heart disease,hearing abnormalities,thoracic deformities,etc.,need to be alert to the presence of chromosomal/gene diseases;children with DS or CCS should pay attention to coughing,wheezing,and shortness of breath in children Such as respiratory symptoms,as well as symptoms such as repeated respiratory tract infections,need to be alert to CDOAS.CDOAS is more complicated with thalassemia,which may be related to iron overload inhibiting the proliferation and differentiation of osteoblasts and the high incidence of thalassemia in this area.