Genotype-phenotype associations in microtia: a systematic review.

BACKGROUND: Microtia is a congenital ear malformation that can occur as isolated microtia or as part of a syndrome. The etiology is currently poorly understood, although there is strong evidence that genetics has a role in the occurrence of microtia. This systematic review aimed to determine the genes involved and the abnormalities in microtia patients' head and neck regions. METHODS: We used seven search engines to search all known literature on the genetic and phenotypic variables associated with the development or outcome of microtia. The identified publications were screened and selected based on inclusion and exclusion criteria and assessed for methodological quality using the Joanna Briggs Institute (JBI) critical appraisal tools. We found 40 papers in this systematic review with phenotypic data in microtia involving 1459 patients and 30 articles containing genetic data involved in microtia. RESULT: The most common accompanying phenotype of all microtia patients was external ear canal atresia, while the most common head and neck abnormalities were the auricular, mental, and oral regions. The most common syndrome found was craniofacial microsomia syndrome. In the syndromic microtia group, the most common genes were TCOF1 (43.75%), SIX2 (4.69%), and HSPA9 (4.69%), while in the non-syndromic microtia group, the most frequently found gene was GSC exon 2 (25%), FANCB (16.67%), HOXA2 (8.33%), GSC exon 3 (8.33%), MARS1 (8.33%), and CDT1 (8.33%). CONCLUSIONS: Our systematic review shows some genes involved in the microtia development, including TCOF1, SIX2, HSPA9, GSC exon 2, FANCB, HOXA2, GSC exon 3, MARS1, and CDT1 genes. We also reveal a genotype-phenotype association in microtia. In addition, further studies with more complete and comprehensive data are needed, including patients with complete data on syndromes, phenotypes, and genotypes.

Treatment of extended comminuted mandibular fractures with infected cutaneous fistule Post-ORIF using a reconstruction plate: A case report.

Introduction: We report a case of an extended comminuted mandibular fracture using a reconstruction plate, miniplates and arch bar. Cases of extended comminuted mandibular fractures report high rates of complications. In this case, the patient subsequently suffered from an infected cutaneous fistule and non-union of the comminuted segments. Case report: An 18-year old male arrived at the emergency room after a motorcycle accident with extensive comminuted mandibular fractures extending bilaterally with splitting at the mandibular angle and shattered bony fragments of the alveolus and mandible body. ORIF was performed using a locking reconstruction plate, miniplates and screw followed by maxillomandibular fixation using the arch-bar. Two weeks after the operation, a cutaneous fistule formed in the submental region. After multiple local debridements with little improvement, surgical debridement was done and a small comminuted bone fragment that underwent nonunion was removed. Final evaluation of the patient showed optimal results with satisfactory masticatory function and an acceptable anatomical shape of the lower jaw. Discussion: Extensively comminuted mandibular fractures are known to be difficult to manage. Although the controversy between open versus closed reduction of comminuted mandibular fractures remain, advancements in surgical techniques and equipment has shifted towards open reduction and internal fixation, allowing for better and faster anatomical and functional restoration. Conclusion: ORIF should be the treatment of choice in extended comminuted mandibular fractures. A mandibular reconstruction plate can be used to achieve a good results with a relatively faster return of function. Although the incidence of infection in mandibular fractures is high, adequate debridement and plate removal can bring good results as seen in this case. Shifting from closed to open reduction allows the patient to have faster results with less complications in the future.