Microtia in a Chinese Specialty Clinic Population: Clinical Heterogeneity and Associated Congenital Anomalies

Abstract

Background: Microtia is a congenital anomaly of the external ear that can appear in isolation or in association with other congenital anomalies. In this study, the authors identify the prevalence and phenotypes of associated congenital malformations in patients with microtia in a Chinese specialty clinic population. Methods: Data were collected from 672 patients seen between December of 2014 and February of 2016 in the Department of Auricular Reconstruction at the Plastic Surgery Hospital of Peking Union Medical College. All patients were examined by trained clinicians and classified into one of three grades of microtia. Co-occurring congenital anomalies were detected and recorded. Results: The majority of study participants were male patients (72 percent), and most participants had unilateral microtia (93 percent, 68 percent of whom had right-side microtia). Two hundred ninety-three patients (44 percent) had one or more associated anomalies. The most commonly occurring comorbid malformations were those of the ear, face, and neck (40 percent of all associated malformations); musculoskeletal system (35 percent); and cardiovascular system (11 percent). Conclusions: These data represent the first detailed and thematic study of microtia and associated congenital anomalies in a Chinese clinical population. Substantial clinical heterogeneity was observed, and the prevalence of comorbid congenital malformations was high. Future studies investigating congenital anomalies associated with microtia are needed to improve understanding of its cause.

Heterogeneity of Accompanying Phenotypes and Genomic Variants Involved in Microtia

“…The results of this study can complement our cognitive deficits in phenotypes associated with microtia. For example, the accompanying symptoms were mainly craniofacial abnormalities and musculoskeletal deformities in past studies, 5,6 whereas in this article nervous system defects accounted for a large proportion. It is speculated that the relatively cryptic symptoms of the nervous system and the complexity of the diagnosis may have contributed to the neglect during clinical evaluation.…”

“…The latter is often associated with abnormalities of other systems including craniofacial anomalies, limb defects, cardiovascular malformations, kidney dysplasia, thoracic abnormalities, and so on. [5][6][7][8][9][10][11][12] However, only a few phenotypic combinations are named as a defined syndrome based on the etiology found or several clinically recognizable symptoms that often occur together. For instance, a group of craniofacial abnormalities with microtia, facial asymmetry, ocular defects, and spinal deformities as typical phenotypes, was named Oculo-auriculo-vertebral spectrum.…”

“…Microtia can be divided into simple microtia and syndromic microtia. The latter is often associated with abnormalities of other systems including craniofacial anomalies, limb defects, cardiovascular malformations, kidney dysplasia, thoracic abnormalities, and so on 5–12 . However, only a few phenotypic combinations are named as a defined syndrome based on the etiology found or several clinically recognizable symptoms that often occur together.…”

Genetic Screening of Targeted Region on the Chromosome 22q11.2 in Patients with Microtia and Congenital Heart Defect

“…A total of 85% of patients with CHARGE syndrome also had congenital heart defect (CHD). A recent study in the Chinese Han population showed that 44% of patients with microtia have one or more comorbid anomalies, including facial and neck (40%), followed by the musculoskeletal system (35%) and cardiovascular system (11%) [ 7 ]. A high incidence of CHD (3.35~18.5%) in microtia patients has been observed in multiple populations, but the potential genetic mechanisms underlying this association are still unclear [ 8 ].…”

Epidemiological Research of Microtia Combined With Congenital Heart Disease

“…Microtia occurs more frequently in right side and males 4,5,44 About 40% of patients with microtia have other malformations or are part of a syndrome 6 . According to a research specified for Chinese, about 44% (293/672) of microtia patients had one or more associated congenital malformation, 7 which was consistent with previous research 6,8 . The common associated congenital malformations included preauricular skin tags, 8 facial nerve dysfunction, 9,10 spinal deformity, kidney malformation, limb malformation, cholesteatoma, 11 and CHD 12 …”