| Objective: Human external ear has complicated three-dimensional structure,and ear reconstruction is always one of the difficulties of plastic surgery and reconstruction.As a detailed structure that attracts most attentions of the patients,a perfect external helix is critical for the final appearance of the reconstructed ear.In clinical practice,we should sufficiently understand the developmental conditions of the eighth costal cartilage to mold the external helix better,and accomplish individualized carving according to the texture and features of the cartilage.Normal ear contour depends on normal auricle cartilage development.it is important to test gene mutation on patients auricle cartilage and blood in order to study pathogenesis of microtia.Methods: The developmental conditions of the eighth costal cartilages in 415 patients who received ear reconstruction with autogenous costal cartilage in our hospital from 2012 to 2015 were analyzed,during which,the length,width,flexibility,and plasticity that were closely related with the reconstruction of the external helix attracted predominate attentions.During the surgery,based on the features of the above-mentioned aspects,different cartilage carving and jointing methods were used to accomplish reasonable length and strength of the cartilage of the external helix as well as natural jointing between the external helix and ear lobe,and consequently four external helix reconstruction programs corresponding to the developmental conditions of the cartilages were made.28 patients with congenital microtia were selected as the research object,using gDNA as a template for BMP5,Wnt5 a gene,after PCR reaction section,purification of PCR products,the PCR products were sequenced directly,the sequence analysis of SNP locus.Study on the WES and WGS of microtia monozygotic twins Results:Four possible scenarios of using the eighth costal cartilage to reconstruct the external helix were summarized and an autogenous costal cartilage ear stent that was individualized and with natural appearance was obtained.BMP5 group,in the 25 cases,the results showed that the amino acid mutation of S in the 16 amino acids was F,which indicated that the mutation of amino acid in this site might be more likely to cause the deformity in children.WES on two microtia monozygotic twins and WGS on a family of monozygotic twins showed there was no matching mutation.Conclusion: According to the developmental conditions of the eighth costal cartilage,a more satisfactory appearance of the reconstructed ear than ever before is obtained by choosing corresponding external helix reconstruction program.Reasonable recovery of the external helix structure is very important for the appearance of the reconstructed ear.There was no amino acid mutation in all the samples,so it was not possible to conclude which amino acid mutation was responsible for microtia.The final decision on whether or not to have microtia may be a combination of mutant amino acids.No matching mutation was finded by WES on two microtia monozygotic twins and WGS on a family of monozygotic twins. |