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.

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.

Epidemiologic characteristics and time trend in the prevalence of anotia and microtia in China.

BACKGROUND: Previous studies have shown an inconsistent time trend on the prevalence of anotia and microtia. Little has been reported on the epidemiologic characteristics of anotia and microtia in the Chinese population. METHODS: Data from 1996-2007 were obtained from the Chinese Birth Defects Monitoring Network in China. Birth prevalence of anotia and microtia were assessed according to demographic characteristics and annual time trend. Poisson regression was used to calculate crude and adjusted prevalence ratios (APRs) and 95% confidence intervals (CIs) for selected demographic characteristics and subgroups of anotia and microtia. RESULTS: A total of 1933 cases with anotia/microtia were identified among 6,308,594 live births, stillbirths, and terminations of pregnancy, yielding a rate of 3.06 per 10,000 births. Isolated anotia/microtia had a prevalence of 2.25 per 10,000 births, whereas among nonisolated cases, the prevalence was 0.81 per 10,000 births. The prevalence rates of anotia/microtia increased significantly during 1996-2007 (p < 0.05). Birth prevalence of isolated anotia/microtia was significantly higher among western births (APR, 1.24; 95% CI, 1.10-1.40), mothers residing in urban areas (APR, 1.29; 95% CI, 1.15-1.46), mothers more than 35 years of age (APR, 1.26; 95% CI, 1.01-1.57), and males (APR, 1.38; 95% CI, 1.24-1.53). No significant associations were observed between nonisolated anotia/microtia and geographic areas, maternal residence, and infant sex (except for maternal age). CONCLUSION: An increasing trend of the birth prevalence of anotia and microtia is observed in China. Higher prevalence risk of isolated anotia and microtia is found among western births, mothers residing in urban areas, older mothers, and males.

Maternal occupational exposure to ionizing radiation and major structural birth defects.

BACKGROUND: Ionizing radiation (IR) is known to be carcinogenic and mutagenic, but little is known about the association between maternal occupational exposure to IR and birth defects. METHODS: We studied 38,009 mothers who participated in the National Birth Defects Prevention Study and delivered between 1997 and 2009. We assessed odds ratios [ORs] for the association between maternal occupations with potential exposure to IR and 39 birth defects. RESULTS: We observed significant odds ratios (ORs) for isolated hydrocephaly (adjusted OR [AOR], 2.1; 95% confidence interval [CI], 1.1-4.2), isolated anotia/microtia (AOR, 2.0; 95% CI, 1.0-4.0), isolated colonic atresia (crude OR, 7.5; 95% CI, 2.5-22.3), isolated omphalocele (AOR, 2.3; 95% CI, 1.1-4.6) and isolated anencephaly (crude OR, 0.23; 95% CI, 0.06-0.94). We also observed a nonsignificant OR for birth defects in aggregate (AOR, 2.0; 95% CI, 0.9-4.6) among mothers with potential occupational exposure to fluoroscopy. CONCLUSION: We assessed 39 birth defects, observing that maternal occupations with potential exposure to IR were associated with a significantly increased risk for 4 birth defects and a significantly protected risk for 1 birth defect. These results should be interpreted cautiously because our measurement of exposure is qualitative, some of these associations may be due to occupational exposures that are correlated with IR and some may be due to chance. However, these findings serve as the first evaluation of these relationships in a large study and may be useful for generating hypotheses for future studies.

Sociodemographic and hispanic acculturation factors and isolated anotia/microtia.

BACKGROUND: It has been observed in several studies that infants with anotia/microtia are more common among Hispanics compared with other racial/ethnic groups. We examined the association between selected Hispanic ethnicity and acculturation factors and anotia/microtia in the National Birth Defects Prevention Study. METHODS: We examined data from mothers of 351 infants with isolated anotia/microtia and 8435 unaffected infants from the National Birth Defects Prevention Study with an expected delivery date from 1997 to 2007. Sociodemographic, maternal, and acculturation factors (e.g., age, maternal education, household income, body mass index, gestational diabetes, folic acid, smoking, alcohol intake, study center, parental birthplace, and years lived in the United States, maternal language) were assessed as overall risk factors and also as risk factors among subgroups of Hispanics (United States- and foreign-born) versus non-Hispanic whites. RESULTS: Compared with non-Hispanic whites, both United States- and foreign-born Hispanic mothers demonstrated substantially higher odds of delivering infants with anotia/microtia across nearly all strata of sociodemographic and other maternal factors (adjusted odds ratios range: 2.1-11.9). The odds of anotia/microtia was particularly elevated among Hispanic mothers who emigrated from Mexico after age five (adjusted odds ratios = 4.88; 95% confidence interval = 2.93-8.11) or who conducted the interview in Spanish (adjusted odds ratios = 4.97; 95% confidence interval = 3.00-8.24). CONCLUSION: We observed that certain sociodemographic and acculturation factors are associated with higher risks of anotia/microtia among offspring of Hispanic mothers.

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.

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.

Risk factors and demographics for microtia in South America: a case-control analysis.

BACKGROUND: The etiopathogenesis of microtia is still unknown in the majority of the cases, particularly for individuals presenting with isolated microtia. Our aim was to evaluate potential risk factors for this condition using a case-control approach. METHODS: We analyzed data from 1,194 live births with isolated microtia enrolled in the ECLAMC study (Estudio Colaborativo Latino Americano de Malformaciones Congénitas) from 1982 to 2011 and their respective controls. Odds ratios (ORs) were estimated with logistic regression models along with 95% confidence intervals for the resulting OR estimates controlling for the effects of potential confounders (sex, maternal age, hospital, and year of birth) for an adjusted OR (aOR). RESULTS: Multiparity was associated with a higher risk of microtia compared with primiparity (aOR, 1.5; 95% confidence interval [CI], 1.2-1.8), with women who had eight or more prior pregnancies having the highest risk (aOR, 2.8; 95% CI, 1.6-5.2). Women who presented with cold-like symptoms were at higher risk for microtia (aOR, 2.2; 95% CI, 1.2-3.9) as well as those that used tobacco or alcohol during pregnancy (aOR, 1.7; 95% CI, 1.1-2.6 and aOR, 1.4; 95% CI, 0.9-2.1, respectively). The association with alcohol use appeared to be limited to those women who reported binge drinking during pregnancy (aOR, 1.4; 95% CI, 0.7-3.1). Cases from hospitals at low altitude (<2500 m) tended to have more severe types of microtia than those from hospitals at high altitude. CONCLUSION: These results support the hypothesis that, in addition to teratogens, other nongenetic risk factors contribute to the occurrence of isolated microtia.