Reconstruction of the microtic ear with autologous cartilage and molecular genetic analysis of microtic patients

Microtia literally means small ear. Microtia deformity has variable clinical presentations including absence of any anatomical part of the ear to complete ear aplasia (anotia). In spite of the simplicity of the term of microtia, further researches are still needed, cause of unknown etiology and the difficulty of surgical reconstruction of microtia. The prevalence of microtia is 0.8-4.2 per 10000 births. Microtia has multifactorial etiology. It is thought that several different genetic and environmental factors are responsible from the etiology of microtia. Mendelian hereditary forms of microtia with an autosomal dominant or recessive mode of inheritance, and some forms due to chromosomal aberrations have been reported. Since wide variety of animal investigations have been performed about the hox genes which is known to have an important role on branchial arch development, a gene locus responsible from microtia is still unclearIn our study, we were planning to research the promotor polymorphism of FGF3 gene to investigate genetic etiological predisposition and familial inheritance of microtia using PCR-SSCP system on the blood of microtic patients and their family referred to our clinic. Moreover, we proposed to compare the phenotypical features of patients? in whom we determined genetic variety and patients who had normal genetic attribution. In the same ages with microtia patients, 21 patients who don?t have any syndromes or microtia history were included to this study as a control groupIn 4 of 21 patients included in that study, we identified movement differences on polyacrylamide gel electrophoresis. In 3 patient c.254delT gene locus and in 2 patient p.Leu6Pro gene locus of FGF3 genes were identified to have differences. The patient DNA?s were keeping for obtaining DNA sequence analysis. One of the patients had differences in both 2 gene locus. Four of the patients that identified differences on FGF gene locus had hemifascial microsomia features and one patient has several eye and hand findings. We performed a histopathological examination on remnant cartilage fragments that we took out during the microtia operation and investigate whether the remnant cartilage had different histological findings or not.