暂无摘要。

BACKGROUND: Autologous costal cartilage has gained widespread acceptance as an important material for ear reconstruction in patients with microtia. Despite its recognition as being \"worth the trade-off,\" attention should be directed toward donor-site deformities. This systematic review focused on existing English literature related to microtia reconstruction and aimed to reveal the incidence of chest wall deformities and assess the effectiveness of the various proposed surgical techniques aimed at reducing donor-site morbidities.
METHODS: A comprehensive search was conducted on Pubmed and OVID using the keywords \"microtia,\" and \"chest deformity\" or \"rib harvest.\" Articles were screened based on predefined inclusion and exclusion criteria. Data acquisition encompassed patient demographics, employed surgical techniques, methods for evaluating chest deformity, and incidence of associated complications.
RESULTS: Among the 362 identified articles, 21 met the inclusion criteria. A total of 2600 cases involving 2433 patients with microtia were analyzed in this review. Perichondrium preservation during cartilage harvesting led to a significant reduction in chest deformities. However, the wide incidence range (0% to 50%) and the lack of specific assessment methods suggested potential underestimation. Computed tomography revealed reduced chest wall growth in the transverse and sagittal directions, resulting in decreased thoracic area. Innovative surgical techniques have shown promising results in reducing chest deformities.
CONCLUSIONS: Although a quantitative analysis was not feasible, objective evidence of deformities was established through computed tomography scans. This analysis highlighted the need for dedicated studies with larger sample sizes to further advance our understanding of chest wall deformities in microtia reconstruction.

Microtia is a congenital and morphological anomaly of one or both ears, which results from a confluence of genetic and external environmental factors. Up to now, extensive research has explored the potential utilization of computational methodologies in microtia and has obtained promising results. Thus, the authors reviewed the achievements and shortcomings of the research mentioned previously, from the aspects of artificial intelligence, computer-aided design and surgery, computed tomography, medical and biological data mining, and reality-related technology, including virtual reality and augmented reality. Hoping to offer novel concepts and inspire further studies within this field.

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.
RESULTS: 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.

BACKGROUND: To report a case of a 4-year-old patient with Goldenhar syndrome.
METHODS: The author presents a rare case report involving a 4-year-old boy with multiple malformations. A comprehensive examination showed that the patient primarily had a limbal dermoid. He also has bilateral microtia and ear canal deformities. The skull CT scan and spine X-ray showed Maxillofacial Abnormalities and scoliosis. Whole Exome Sequencing revealed potential gene variations related to microtia. Although certain circumstances prevented us from initiating follow-up treatment for the patient, we have provided a detailed account of the diagnostic methodologies used for this condition.
CONCLUSIONS: Goldenhar syndrome is a congenital condition, predominantly presenting as sporadic cases. Its diagnosis and management typically necessitate the involvement of multiple disciplines, including otolaryngology and craniofacial surgery. The syndrome encompasses a variety of craniofacial features, which can facilitate early diagnosis and guide subsequent therapeutic interventions.

Mastocytosis is a heterogeneous group of rare hematological disorders that can occur in infancy. We report a 16-year-old girl who presented with an aggressive form of systemic congenital mastocytosis, associated with a significant global developmental delay, deafness, and multiple anomalies. At 4 years of age, she developed a germinoma presenting as an invasive spinal mass. Extensive cytogenetic, metabolic, and molecular genetic studies that included whole-exome sequencing studies revealed a KIT alteration (NM_000222.3(KIT):c2447A > 7 pAsp816Val) and likely pathogenic variant in the DNA from peripheral blood and skin lesions. C-kit was also found to be overexpressed in the spinal tumor cells. We compared the features of this child to those of six previously reported pediatric patients with cutaneous mastocytosis, microcephaly, microtia, and/or hearing loss reported in OMIM as mastocytosis, conductive hearing loss, and microtia (MIM 248910), for which the etiology has not yet been determined. This report extends the currently recognized spectrum of KIT-related disorders and provides clues as to the potential etiology of a syndromic form of congenital mastocytosis. International efforts to understand the benefits of long-term targeted therapy with tyrosine kinase inhibitors for this KIT-altered rare disease should continue to be evaluated in clinical trials.

BACKGROUND: Up to 17.4 in every 10,000 births are affected by microtia, but no consensus exists on a gold standard technique for autogenous repair. In this study, the authors compare 2 common methods-the Brent and Nagata autogenous costal cartilage ear reconstruction techniques. A systematic review of the literature and a quantitative meta-analysis to compare the outcomes of these 2 approaches were performed. The outcomes analyzed included rates of infection, necrosis, cartilage exposure, cartilage resorption, hematoma, wire extrusion, and hypertrophic scar.
METHODS: A MEDLINE database systematic review with the following keywords: microtia, Brent, and Nagata was performed. Case reports and articles without original data or patient outcomes were excluded. Inclusion methods for study selection are outlined in Supplemental Digital Content 1, http://links.lww.com/SCS/F461 , below. The prevalence of outcomes for each study was analyzed through meta-analysis of proportions using Stata.
RESULTS: A total of 536 potential studies were retrieved for review. Twelve of these studies met inclusion criteria. Four studies utilized the Brent method of repair with the inclusion of 563 ear reconstructions. Nine studies implemented the Nagata technique in 2304 reconstructions. Two studies directly compared the Brent (327 ears) and Nagata (471 ears) techniques. The calculated rate and 95% confidence intervals are summarized in Supplemental Digital Content 2, http://links.lww.com/SCS/F461 . There were no statistically significant differences in complication rates between the Brent and Nagata microtic reconstruction techniques identified in this study.
CONCLUSIONS: The Brent and Nagata microtia reconstruction techniques have no difference in the risk of infection, necrosis, cartilage exposure, cartilage resorption, hematoma, wire extrusion, or hypertrophic scars.

To date, over 400 syndromes with hearing impairment have been identified which altogether constitute almost 30% of hereditary hearing loss (HL) cases around the globe. Manifested as complete or partial labyrinthine aplasia (severe malformations of the inner ear structure), type I microtia (smaller outer ear with shortened auricles), and microdontia (small and widely spaced teeth), labyrinthine aplasia, microtia, and microdontia (LAMM) syndrome (OMIM 610706) is an extremely rare autosomal recessive condition caused by bi-allelic mutations in the FGF3 gene.
Using the whole-exome sequencing (WES) data of the proband, we analyzed a consanguineous Iranian family with three affected members presenting with congenital bilateral HL, type I microtia, and microdontia.
We discovered the homozygous deletion c.45delC in the first exon of the FGF3 gene, overlapping a 38.72 Mb homozygosity region in chromosome 11. Further investigations using Sanger sequencing revealed that this variant co-segregated with the phenotype observed in the family.
Here, we report the first identified case of LAMM syndrome in Iran, and by identifying a frameshift variant in the first exon of the FGF3 gene, our result will help better clarify the phenotype-genotype relation of LAMM syndrome.

Isolated microtia is a congenital facial anomaly, and its cause is unclear. This study systematically investigated related suspicious factors.
A systematic review was conducted following the Preferred Reporting Items for Systematic Review and Meta-Analyses guidelines. Four databases were searched for eligible case-control and cohort studies. Odds ratios and 95% confidence intervals were calculated for each exposure variable if data from at least two eligible studies were provided. If not, narrative syntheses were performed.
Twenty-eight articles were included. Meta-analyses were conducted with 22 articles, and 25 factors were identified to have significant association with isolated microtia. Moderate evidence showed that parental low education level, low birth weight (<2500 g), parity greater than or equal to 2, and family history of malformation (especially microtia); maternal intake of antibiotics, benzodiazepines, nonsteroidal antiinflammatory drugs, progesterone, and traditional Chinese medicine; in addition to maternal nongestational diabetes, upper respiratory infection, and radiation exposure increased the risk of microtia in offspring. Limited evidence showed that maternal Hispanic race, pesticide exposure, threatened abortion, history of spontaneous abortion, pet contact, and male gender were associated with increased risk. Maternal race of black or non-Hispanic, and living in an urban area were two protective factors found with moderate and limited evidence, respectively.
This study has provided an initial investigation of potential factors associated with isolated microtia and evidence-based conclusion supporting prevention of modifiable factors.

This paper describes 20 years of microtia and craniofacial microsomia (CFM) psychosocial and healthcare studies and suggests directions for clinical care and research.
A narrative review of papers January 2000 to July 2021 related to psychosocial and healthcare experiences of individuals with microtia and CFM and their families.
Studies (N = 64) were mainly cross-sectional (69%), included a range of standardized measures (64%), and were with European (31%), American (27%), or multinational (23%) samples. Data were generally collected from both patients and caregivers (38%) or patient self-report (35%). Sample sizes were 11 to 25 (21%), 26 to 50 (19%), 51 to 100 (22%), or over 100 (38%). Studies addressed 5 primary topics: (1) Healthcare Experiences, including Medical Care, Hearing Loss/Amplification, Diagnostic Experiences, and Information Preferences; (2) Psychosocial Experiences, including Teasing, Behavioral Adjustment, Psychosocial Support, and Public Perception; (3) Neurocognitive Functioning and Academic Assistance; (4) Pre- and Post-Operative Psychosocial Outcomes of Ear Reconstruction/Canaloplasty; and (5) Quality of Life and Patient Satisfaction.
Care involved multiple specialties and was often experienced as stressful starting at diagnosis. Psychosocial and neurocognitive functioning were generally in the average range, with possible risk for social and language concerns. Coping and resiliency were described into adulthood. Satisfaction and positive benefit of ear reconstruction/canaloplasty were high. Care recommendations include increasing: hearing amplification use, microtia and CFM knowledge among providers, efficient treatment coordination, psychosocial support, academic assistance, and advances to minimize surgical scarring. This broad literature overview informs clinical practice and research to improve psychosocial outcomes.