Complex Presentation of Goldenhar Syndrome in a Preterm Neonate: A Case Report.

Goldenhar syndrome, also known as oculo-auriculo-vertebral syndrome, is a rare congenital disorder characterized by craniofacial anomalies, ear malformations, and ocular abnormalities. It is also associated with multiple system involvement, including the central nervous system, renal, cardiovascular, and gastrointestinal systems. This case report presents a detailed description of a preterm female neonate diagnosed with Goldenhar syndrome. Many of the classical features, along with ventricular septal defect (VSD), were present in our patient. She was complicated by prematurity and a urinary tract infection and was later diagnosed with a VSD at the age of three months. The multidisciplinary examination and management involving pediatricians, pediatric surgeons, ophthalmologists, and otorhinolaryngologists led to comprehensive care for the patient. This case emphasizes the importance of early diagnosis and management for optimal patient outcomes.

Hemifacial Microsomia Surgical Approach and Anotia Reconstruction: A Case Report.

BACKGROUND/AIM: Hemifacial microsomia (HFM) is the second most common congenital anomaly of the craniomaxillofacial region after the cleft lip and palate. This malformation is characterized by unilateral mandible and ear hypoplasia. Treatment varies and depends on different phenotypes. Severe deficiencies require multiple reconstructive surgeries to address facial asymmetries. This study aimed to review the surgical approach and evaluate the postoperative results of a case with right hemifacial microsomia and anotia. CASE REPORT: This is the case of a 35-year-old female patient who, after multiple graft operations in the right mandible due to hemifacial microsomia, was operated for auricle reconstruction. Initially, a three-dimensional custom made Medpor (porex) was used, covered by the superficial temporal fascia. Subsequently, due to inflammation and partial exposure of this porous polyethylene implant (PPI), a temporalis muscular flap along with the deep temporal fascia were used as a salvage operation. Ten months later, the patient underwent deep plane face lift combined with open rhinoplasty. Lefort I osteotomies and transoral lip lengthening through a transection of the levator nasi septi muscle were also performed. Ear helix reconstruction was completed with a rotation scalp flap after tissue expansion. The patient had an uncomplicated postoperative course with an aesthetically acceptable result. CONCLUSION: As a congenital disorder, hemifacial microsomia is present at birth and successful reconstruction is of fundamental importance for the smooth integration of these individuals into society. The multiple asymmetries, the affected topographic area of the face, as well as the onset in neonatal age constitute a challenge for reconstructive surgery.

Early Postoperative Complications in Microtia Reconstruction: An Analysis of the NSQIP-P Database.

OBJECTIVES: Microtia and anotia repair require techniques that consider both aesthetics and function. The outcomes of different reconstructive frameworks such as costal cartilage or a porous polyethylene implant have not been evaluated on a national scale. We aim to understand differences in outcomes/complication rates and operative times between different reconstructive frameworks used in microtia/anotia reconstruction. METHODS: This was a retrospective review of the National Surgical Quality Improvement Program Pediatric database between 2012-2019. Patients with ICD-9/10 codes for microtia/anotia were isolated. Reconstruction methods were identified using CPT codes for rib graft, ear cartilage graft, and alloplastic implants (biocompatible implants, porous polyethylene, etc). Outcomes included operative-time, wound complications, and unplanned re-operations within 30 days of surgery. Multivariable logistic regression was performed to control for confounders. RESULTS: We included 593 patients for analysis. Reconstruction with rib grafts (N = 506, 85%) was the most common. In 58 patients (9.8%), an implant was used for the auricular framework, whereas in 47 (7.9%) ear cartilage grafts were used. The overall wound complication rate was 3.4%. On univariate analysis, alloplastic implants exhibited a higher rate of wound complications (8.6% vs. 2.8%, p = 0.037) and longer operative times (350 min vs. 235 min, p < 0.001). After controlling for demographics and comorbidities, implants conferred an independently increased risk of wound complications (OR 3.52, 1.10-9.54, p = 0.020). CONCLUSION: Although the use of alloplastic implants (e.g., porous polyethylene) may confer an increased risk of early complications, the long-term clinical implications of these findings are unclear relative to aesthetic benefits. Multi-institutional studies are needed to validate these findings using patient-specific and surgeon-specific data. LEVEL OF EVIDENCE: 3 Laryngoscope, 134:1214-1219, 2024.

Phenotypic and Genomic Characterization of the Comune di Sicilia Goat: Towards the Conservation of an Endangered Local Breed.

The Comune di Sicilia, a local goat breed from Sicily (Italy), is currently undergoing recognition as a distinct breed. This study aims to characterize the population both phenotypically and genomically to advance its recognition process. A total of 78 subjects from two locations were enrolled, and their phenotypic data, including qualitative traits and morphometric measurements of adult animals, were recorded and statistically analyzed. The goats were genotyped using the Illumina 50 k Goat SNPchip, comparing them with 473 goats from 15 Italian breeds. Population structure, phylogenetic relationships, admixture, and genomic inbreeding were analyzed. Additionally, subjects with different morphological traits were compared using FST and runs of homozygosity, leading to the identification of potential candidate genes associated with anotia and wattle presence in goats. The Comune di Sicilia breed exhibited distinctive genomic and phenotypic features, setting it apart from other breeds in the same region. However, moderate variability, possibly influenced by selection practices, was also observed. To ensure the breed's preservation and prevent excessive inbreeding, a comprehensive approach considering both morphology and genomic background is recommended. This study contributes valuable insights into the genetic peculiarities of the Comune di Sicilia goat, supporting its recognition as a unique and valuable breed.

3D printed bionic ear and microtia-anotia: Medical and forensic implications.

Advances in science and technology result in continuous upgrading of the medical and clinical fields. These upgrades have been beneficial to many patients suffering from congenital and developmental diseases causing compromised functionality as well as the structural integrity of the affected organs. One such congenital anomaly is the microtia-anotia spectrum, which results in deformities of the external ear, affecting the hearing capability of an individual. The collaboration and integration of electronics in human biology are exemplified by the development of a 3D printed cyborg bionic ear from the patient's own cells, which is implanted to ameliorate microtia and improve the patient's hearing capacity. Since the late nineteenth century, forensic scientists have explored the external ear, establishing the significance of ear biometrics in the identification process. Similarly, ear prints can also play an important role in identifying the felon of a crime. In this regard, we examine the structure and functionality of implanted ears. This communication is an attempt to enlighten investigators on the forensic importance and limitations of the use of bionic ears for identification.

Factors associated with nonsyndromic anotia and microtia, Texas, 1999-2014.

BACKGROUND: Few risk factors have been identified for nonsyndromic anotia/microtia (A/M). METHODS: We obtained data on cases and a reference population of all livebirths in Texas for 1999-2014 from the Texas Birth Defects Registry (TBDR) and Texas vital records. We estimated prevalence ratios (PRs) and 95% confidence intervals (CIs) for A/M (any, isolated, nonisolated, unilateral, and bilateral) using Poisson regression. We evaluated trends in prevalence rates using Joinpoint regression. RESULTS: We identified 1,322 cases, of whom 982 (74.3%) had isolated and 1,175 (88.9%) had unilateral A/M. Prevalence was increased among males (PR: 1.3, 95% CI: 1.2-1.4), offspring of women with less than high school education (PR: 1.3, 95% CI: 1.1-1.5), diabetes (PR: 2.0, 95% CI: 1.6-2.4), or age 30-39 versus 20-29 years (PR: 1.2, 95% CI: 1.0-1.3). The prevalence was decreased among offspring of non-Hispanic Black versus White women (PR: 0.6, 95% CI: 0.4-0.8) but increased among offspring of Hispanic women (PR: 2.9, 95% CI: 2.5-3.4) and non-Hispanic women of other races (PR: 1.7, 95% CI: 1.3-2.3). We observed similar results among cases with isolated and unilateral A/M. Sex disparities were not evident for nonisolated or bilateral phenotypes, nor did birth prevalence differ between offspring of non-Hispanic Black and non-Hispanic White women. Maternal diabetes was more strongly associated with nonisolated (PR: 4.5, 95% CI: 3.2-6.4) and bilateral A/M (PR: 5.0, 95% CI: 3.3-7.7). Crude prevalence rates increased throughout the study period (annual percent change: 1.82). CONCLUSION: We identified differences in the prevalence of nonsyndromic A/M by maternal race/ethnicity, education, and age, which may be indicators of unidentified social/environmental risk factors.

Patterns of co-occurring birth defects in children with anotia and microtia.

Many infants with anotia or microtia (A/M) have co-occurring birth defects, although few receive syndromic diagnoses in the perinatal period. Evaluation of co-occurring birth defects in children with A/M could identify patterns indicative of undiagnosed/unrecognized syndromes. We obtained information on co-occurring birth defects among infants with A/M for delivery years 1999-2014 from the Texas Birth Defects Registry. We calculated observed-to-expected ratios (OER) to identify birth defect combinations that occurred more often than expected by chance. We excluded children diagnosed with genetic or chromosomal syndromes from analyses. Birth defects and syndromes/associations diagnosed ≤1 year of age were considered. We identified 1310 infants with non-syndromic A/M, of whom 38% (N = 492) were diagnosed with co-occurring major defects. Top combinations included: hydrocephalus, ventricular septal defect, and spinal anomalies (OER 58.4); microphthalmia and anomalies of the aorta (OER 55.4); and cleft lip with or without cleft palate and rib or sternum anomalies (OER 32.8). Some combinations observed in our study may represent undiagnosed/atypical presentations of known A/M associations or syndromes, or novel syndromes yet to be described in the literature. Careful evaluation of infants with multiple birth defects including A/M is warranted to identify individuals with potential genetic or chromosomal syndromes.

Ten-year trends in the incidence of microtia: a nationwide population-based study from Taiwan.

PURPOSE: Few studies have explored population-based incidence rates of microtia using nationwide data. The aim of this study was to analyze the 10-year secular trends in the incidence of microtia and/or anotia in Taiwan from 2008 to 2017 using nationwide population-based data. METHODS: Patient data were retrieved from Taiwan's National Health Insurance Dataset, after identifying 1152 children aged ≤ 1 year with a first-time diagnosis of microtia or anotia between January 2008 and December 2017. The annual microtia-anotia incidence rate was the sum of new microtia-anotia cases in a year divided by total infant population in the year. Furthermore, we used the annual percent change (APC) to study the secular trend in microtia-anotia incidence rate. RESULTS: The annual incidence rate of microtia-anotia averaged across the 10-year period was 57.7 per 100,000 infants (standard deviation = 8.6). The annual incidence rates of microtia and anotia were 53.3 and 4.4 per 100,000 infants, respectively, during this period. Furthermore, female infants had a higher incidence than males (63.3 vs. 52.4 per 100,000). The incidence of microtia-anotia gradually decreased between 2008 and 2017 with an APC of - 5.64% (95% CI - 9.31 ~ - 1.18%, p = 0.004). Since 2011, females had a significantly higher annual incidence rate of microtia-anotia than males. CONCLUSIONS: The incidence of microtia-anotia was 57.7 per 100,000 infants in Taiwan, which declined during the study period 2008-2017. The female-to-male incidence ratio was 1.21:1.

Does Prematurity Play a Role in Newborn Microtia-Anotia?

OBJECTIVE: Microtia-anotia (MA) describes a range of external ear anomalies which is commonly associated with various syndromes and malformations of the head and neck. Previous studies have suggested a strong association between MA and male sex, maternal diabetes, and Hispanic race/ethnicity. This study seeks to evaluate the associations between MA and preterm newborns in the United States. METHODS: Population-based inpatient registry analysis was conducted. Kids' Inpatient Database (2016) was used to identify weighted in-hospital births with diagnosis of prematurity or MA. Demographic information was obtained, and odds ratios (ORs) were used to determine associations between prematurity and MA. RESULTS: Among patients included in our dataset, 8.655% (326 285) were preterm and 0.016% (523) had MA. 0.003% (109) of patients were preterm and had MA. Preterm infants had 2.19 times the odds (95% C.I. = 1.78-2.69) of having MA when compared to the full-term population. The binary logistic regression model accounting for possible confounding variables produced an aOR of 1.48 (95% C.I. = 1.17-1.87) for the association between prematurity and MA. CONCLUSION: Infants who are born preterm are more likely to have MA than full term infants. The current results will allow for improved risk stratification, maternal counseling, and interventions in the case of prematurity.

Berry-Treacher Collins Syndrome With Congenital Bell's Palsy and Unilateral Anotia: Tongue-Tie Release Under General Anesthesia.

The inherited disease of unilateral anotia and ipsilateral Bell's palsy is exceedingly uncommon, but it has a few other clinical manifestations. The prevalence of anotia in combination with congenital Bell's palsy is well-known by Berry-Treacher Collins and Goldenhar syndrome. Despite the prevalence of anotia in combination with Bell's palsy, there have been relatively very few case reports about the corresponding conditions in India. The aim of the paper is to discuss the anesthesia plan for a seven-year-old boy who underwent surgery for tongue-tie release.

Duplication in ECR Near HMX1 and a SNP in GATA6 Genes Regulate Microtia in Awassi Sheep.

Microtia and anotia are hereditary traits characterized by an underdevelopment or complete absence of the outer ear. These congenital malformations observed in many species can exist as part of various syndromes or as an isolated trait as seen in the fat-tailed Awassi sheep breed. Our study aims to identify the genetic mutations causing microtia in Awassi sheep by DNA sequencing. DNA was extracted from blood samples randomly collected from 84 Awassi sheep (16 earless, 41 short ear and 27 normal ear) across different farms. GATA6 exons 1, 2, 4, 6 and 7, CLRN1 intron 3, DCC intron 2, ECR near HMX1 and the intergenic region between GATA6 and MIB1 genes were screened, amplified and sequenced. Allele and genotype frequencies were calculated by direct counting. Association was performed using chi-squared test for goodness-of-fit. Results showed mutations in only two genes significantly associated with microtia in Awassi: duplication in part of ECR near HMX1 (6:114293121-6:114293196) and a SNP at GATA6 exon 7 (23:34498242). Association results revealed that the ECR locus accounts for the microtia phenotype, while GATA6 exon 7 acts as a modifier gene. Genetic screening for these loci can be used to improve selection against microtia in Awassi sheep.

Sociodemographic, health behavioral, and clinical risk factors for anotia/microtia in a population-based case-control study.

OBJECTIVE: Anotia and microtia are congenital malformations of the external ear with few known risk factors. We conducted a comprehensive assessment of a wide range of potential risk factors using data from the National Birth Defects Prevention Study (NBDPS), a population-based case-control study of non-chromosomal structural birth defects in the United States. METHODS: Mothers of 699 infants with anotia or microtia (cases) and 11,797 non-malformed infants (controls) delivered between 1997 and 2011 were interviewed to obtain information about sociodemographic, health behavioral, and clinical characteristics. Adjusted odds ratios (aORs) and 95% confidence intervals (CIs) were estimated with logistic regression. RESULTS: Infants with anotia/microtia were more likely to be male (aOR, 1.29; 95% CI, 1.10-1.50) and from a multifetal pregnancy (aOR, 1.68; 95% CI, 1.16-2.42). Cases were also more likely to have parents of Hispanic ethnicity (maternal aOR, 3.19; 95% CI, 2.61-3.91; paternal aOR, 2.11; 95% CI, 1.54-2.88), and parents born outside the United States (maternal aOR, 1.29; 95% CI, 1.06-1.57; paternal aOR, 1.92; 95% CI, 1.53-2.41). Maternal health conditions associated with increased odds of anotia/microtia included obesity (aOR, 1.31; 95% CI, 1.06-1.61) and pre-pregnancy diabetes (type I aOR, 9.89; 95% CI, 5.46-17.92; type II aOR, 4.70; 95% CI, 2.56-8.63). Reduced odds were observed for black mothers (aOR, 0.57; 95% CI, 0.38-0.85) and mothers reporting daily intake of folic acid-containing supplements (aOR, 0.59; 95% CI, 0.46-0.76). CONCLUSION: We identified several risk factors for anotia/microtia, some which have been previously reported (e.g., diabetes) and others which we investigate for perhaps the first time (e.g., binge drinking) that warrant further investigation. Our findings point to some potentially modifiable risk factors and provide further leads toward understanding the etiology of anotia/microtia.

Evaluation of prenatal diabetes mellitus and other risk factors for craniofacial microsomia.

OBJECTIVES: Craniofacial microsomia (CFM) is a congenital condition that typically involves hypoplasia of the ear and jaw. It is often associated with adverse effects such as hearing loss and sleep-disordered breathing. There is little research on its etiology. METHODS: We conducted a case-control study from maternal interview data collected from mothers of infants with and without CFM. The study included 108 children with and 84 children without CFM. Logistic regression with adjustment for demographic factors was used to evaluate associations between maternal exposures of interest and risk for CFM overall, as well as for different phenotypic sub-groups of children on the CFM spectrum. RESULTS: We found a statistically significant association between diabetes mellitus (DM) and CFM (OR 4.01, 95% CI 1.6-10.5). The association was slightly attenuated after adjustment for BMI. Higher parity was also associated with increased risk for CFM (OR 2.0, 95% CI 1.0-4.0). Vitamin A consumption and/or liver consumption was associated with a 70% lower risk compared with non-users (OR 0.3, 95% 0.1-0.8). Maternal age at the time of pregnancy was not associated with CFM. CONCLUSIONS: These analyses contribute evidence linking maternal DM with an elevated risk of having an infant with CFM, which is consistent with previous research and adds to the body of knowledge about the strength of this association. Further study is warranted to understand the potential mechanisms underlying the effect of DM in the developing embryo.

Population-based birth defects data in the United States, 2011-2015: A focus on eye and ear defects.

BACKGROUND/OBJECTIVES: In this data brief, we examine major eye and ear anomalies (anophthalmia/microphthalmia, anotia/microtia, and congenital cataract) for a recent 5-year birth cohort using data from 30 population-based birth defects surveillance programs in the United States. METHODS: As a special call for data for the 2018 NBDPN Annual Report, state programs reported expanded data on eye/ear anomalies for birth years 2011-2015. We calculated the combined overall prevalence (per 10,000 live births) and 95% confidence intervals (CI), for the three anomalies as well as by maternal age, maternal race/ethnicity, infant sex, laterality, presence/absence of other major birth defects, and case ascertainment methodology utilized by the program (active vs. passive). RESULTS: The overall prevalence estimate (per 10,000 live births) was 1.5 (95% CI: 1.4-1.5) for anophthalmia/microphthalmia, 1.5 (95% CI: 1.4-1.6) for congenital cataract, and 1.8 (95% CI: 1.7-1.8) for anotia/microtia. Congenital cataract prevalence varied little by maternal race/ethnicity, infant sex, or case ascertainment methodology; prevalence differences were more apparent across strata for anophthalmia/microphthalmia and anotia/microtia. Prevalence among active vs. passive ascertainment programs was 50% higher for anophthalmia/microphthalmia (1.9 vs. 1.2) and two-fold higher for anotia/microtia (2.6 vs. 1.2). Anophthalmia/microphthalmia was more likely than other conditions to co-occur with other birth defects. All conditions were more frequent among older mothers (40+ years). CONCLUSIONS: This data brief provides recent prevalence estimates for anophthalmia/microphthalmia, congenital cataract, and anotia/microtia that address a data gap by examining pooled data from 30 population-based surveillance systems, covering a five-year birth cohort of about 12.4 million births.

Co-culture of adipose-derived stem cells and chondrocytes on three-dimensionally printed bioscaffolds for craniofacial cartilage engineering.

OBJECTIVES/HYPOTHESIS: Reconstruction of craniofacial cartilagenous defects are among the most challenging surgical procedures in facial plastic surgery. Bioengineered craniofacial cartilage holds immense potential to surpass current reconstructive options, but limitations to clinical translation exist. We endeavored to determine the viability of utilizing adipose-derived stem cell-chondrocyte co-culture and three-dimensional (3D) printing to produce 3D bioscaffolds for cartilage tissue engineering. We describe a feasibility study revealing a novel approach for cartilage tissue engineering with in vitro and in vivo animal data. METHODS: Porcine adipose-derived stem cells and chondrocytes were isolated and co-seeded at 1:1, 2:1, 5:1, 10:1, and 0:1 experimental ratios in a hyaluronic acid/collagen hydrogel in the pores of 3D-printed polycaprolactone scaffolds to form 3D bioscaffolds for cartilage tissue engineering. Bioscaffolds were cultured in vitro without growth factors for 4 weeks and then implanted into the subcutaneous tissue of athymic rats for an additional 4 weeks before sacrifice. Bioscaffolds were subjected to histologic, immunohistochemical, and biochemical analysis. RESULTS: Successful production of cartilage was achieved using a co-culture model of adipose-derived stem cells and chondrocytes without the use of exogenous growth factors. Histology demonstrated cartilage growth for all experimental ratios at the post-in vivo time point confirmed with type II collagen immunohistochemistry. There was no difference in sulfated-glycosaminoglycan production between experimental groups. CONCLUSION: Tissue-engineered cartilage was successfully produced on 3D-printed bioresorbable scaffolds using an adipose-derived stem cell and chondrocyte co-culture technique. This potentiates co-culture as a solution for several key barriers to a clinically translatable cartilage tissue engineering process. LEVEL OF EVIDENCE: NA. Laryngoscope, 128:E251-E257, 2018.

Osseointegrated implants for auricular prostheses: An alternative to autologous repair.

OBJECTIVES/HYPOTHESIS: This study compares the hospital cost of osseointegrated implants for retention of an auricular prosthesis to autologous ear reconstruction. STUDY DESIGN: Retrospective review. METHODS: This study includes patients who underwent reconstruction for either congenital or acquired ear defects at Duke University Medical Center during 2009 to 2015. RESULTS: A total of nine patients had autologous repair representing nine operative ears, and 16 patients had an osseointegrated implant representing 18 operative ears (two bilateral). The average age for the autologous repair was 11.6 years with 56% male versus 40.7 years with 56% male for the osseointegrated implant patients. For autologous patients, indications for surgery were anotia/microtia in 8/9 (89%) and trauma in 1/9 (11%) versus 6/16 (387.5%) anotia/microtia, 8/16 (50%) cancer, and 2/16 (132.5%) trauma in the osseointegrated implant group. The mean number of surgeries was 3.1 for autologous repairs and 1.0 for osseointegrated repairs (mean difference confidence interval [CI]: -2.4 to -1.8, P < .001). The average cost to the hospital for an osseointegrated repair was $6,491.39 versus $10,047.93 for autologous repairs (CI: $6,496.38 to $-616.68, P = .02) CONCLUSIONS: Osseointegrated implants for retaining an auricular prosthesis has a similar cost to autologous repair of ear defects, but patients underwent an average of two more surgeries with autologous repair. Patients should be able to choose the reconstruction option that best suits their condition and preferences. LEVEL OF EVIDENCE: 4. Laryngoscope, 128:2153-2156, 2018.

ЭХЭМҮТ-Н ХЗП-Н СОНСГОЛ ЗАСЛЫН КАБИНЕТААР ҮЙЛЧЛҮҮЛСЭН ГАДНА ЧИХНИЙ ГАЖ ХӨГЖИЛТЭЙ ХҮҮХДҮҮДИЙН ХЯНАЛТЫН СУДАЛГААНЫ ЗАРИМ ҮР ДҮН / Шинэ санаа Шинэ нээлт

@#BACKGROUND: Microtia is often associated with hearing loss and patients typically require treatment for hearing impairment and surgical ear reconstruction. The occurrence of microtia is of public health importance in part due to the psychosocial sequelae, including the stigma associated with malformations of the ear and the burden of undergoing multiple surgeries In addition, greater than 90% of individuals with microtia experience conductive hearing loss on the affected side. Although children with microtia-anotia are at a greater risk of delayed language development and attention deficit disorders. METHODS: Our study has a 173 childrens from the UB city and countryside. 23 children has a bilateral microtia and anotia. 6 patient wearing BAHA soft band from 6 months age. 150 patients have an unilateral microtia. Microtia was found more commonly in males, unilateral and right sided. Even children with bilateral microtia may have wearing BAHA soft band before 6 months age. RESULTS: External ear malformations are more commonly found in males. Sex ratio 2:1. From other studies right ear malformations are more common in male children. In our study children who have bilateral ear abnormalities wearing BAHA softband and language therapy from 6 months age to able to have normal language development. Children who had surgical treatment and using hearing aid can have normal social life and increased quality of life. CONCLUSION: Early screening in children who have external ear malformation, monitoring language development, wearing BAHA softband from 2 months age who have bilateral ear malformation and one ear affected other one is normal children wear BAHA softband increases children speech and language development.

Cost analysis of microtia treatment in the Netherlands.

INTRODUCTION: Ear reconstruction for microtia is a challenging procedure. Although analyzing esthetic outcome is crucial, there is a paucity of information with regard to financial aspects of microtia reconstruction. This study was conducted to analyze the costs associated with ear reconstruction with costal cartilage in patients with microtia. METHODS: Ten consecutive children with autologous ear reconstruction of a unilateral microtia were included in this analysis. All patients had completed their treatment protocol for ear reconstruction. Direct costs (admission to hospital, diagnostics, and surgery) and indirect cost (travel expenses and absence from work) were obtained retrospectively. RESULTS: The overall mean cumulative cost per patient was €14,753. Direct and indirect costs were €13,907 and €846, respectively. Hospital admission and surgery cover 55% and 32% of all the costs, respectively. DISCUSSION: This study analyzes the costs for autologous ear reconstruction. Hospital admission and surgery are the most important factors of the total costs. Total costs could be decreased by possibly decreasing admission days and surgical time. These data can be used for choosing and developing future treatment strategies.

Maxillofacial features and systemic malformations in expanded spectrum Hemifacial Microsomia.

Hemifacial microsomia (HFM) is a rare, multisystemic congenital disease with estimated frequency of 1/26370 births in Europe. Most cases are sporadic and caused by unilateral abnormal morphogenesis of the first and second pharyngeal arches. The aim of this study is to define the types and frequency of maxillofacial and systemic malformations in HFM patients. This is a case series study of patients with HFM evaluated at a single institution. Data were acquired through history, physical examination, photographs, diagnostic radiology, and laboratory and analyzed by the FileMakerPro database on 95 patients (54F; 41M) of which 89 met the inclusion criteria. Mandibular hypoplasia was observed in 86 patients with right-side preponderance (50). One patient had bilateral mandibular hypoplasia. Seventy-four had external ear anomalies (anotia or microtia). Eleven had bilateral malformed ears. Hearing impairment, associated with stenosis or atresia of the external ear canal, was found in 69 patients (eight with bilateral canal defects). Ocular anomalies were seen in 41 (23 with dermoid cysts) and 39 had orbital malformations. Facial nerve paralysis was observed in 38 patients. Cleft lip/palate (10), preauricular tags (55), and macrostomia (41) were also described. A total of 73/86 had systemic malformations, mainly vertebral (40), genitourinary (25), and cardiovascular (28). Sixteen had cerebral anomalies (four with intellectual disability). All patients suspected of HFM should undergo a complete systematic clinical and imaging investigation to define the full scope of anomalies. Since the disease is rare and complex, affected patients should be monitored by specialized multidisciplinary team centers.

Retinoic Acid Embryopathy.

Isotretinoin is a retinoid which is derived from Vitamin A. It is indicated for severe cystic acne treatment, but it has been classified as teratogenic. A wide spectrum of birth defects including craniofacial, heart, and nervous system malformations have been described with prenatal exposure to this drug. We report the case of a newborn with a history of prenatal exposure to isotretinoin with craniofacial defects, including left-sided anotia, right-sided microtia, complex congenital heart disease, and central nervous system malformation.