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Objective Microtia is a congenital auricular malformation, often part of a syndromic form (35%–55% of cases). The accurate prevalence of associated malformations remains to be determined with regard to the heterogeneous results of the previous studies. This study aims to describe in a large population cohort the abnormalities associated with microtia and to determine the most suitable assessment for these children. Methods This is a retrospective and observational cohort study collecting data from the medical records of children affected by microtia, diagnosed or followed-up between 2007 and 2017. Data were collected via a computer database. Clinical data, as well as imaging or genetic results, were noted. Results Six hundred ninety four children were included, 587 (84.6%) with unilateral and 107 (15.4%) with bilateral microtia. Inner ear malformations were observed in 14.1% of the ears. The main associated anomalies were hemifacial microsomia (29%), velopharyngeal insufficiency (9%), ophthalmologic (6.2%), vertebral (5.9%), cardiac (5.5%) and kidney (3%) abnormalities. Main identified entities were Goldenhar, Treacher-Collins and Guion-Almeida syndromes. Conclusion A comprehensive clinical assessment must be completed when microtia is diagnosed. Besides screening well-known oculo-auriculo-vertebral spectrum malformations, velopharyngeal insufficiency should be systematically sought. Specialized care must be provided to the very frequently associated hemifacial macrosomia. Mild forms of this last malformation may correspond to Guion-Almeida syndrome, especially in cases of learning disability.

Introduction Over the last 10–15 years, usage of internal mandibular distraction systems has increased in the pediatric population, particularly for craniofacial syndromes. Mandibular distraction osteogenesis (MDO) has been shown to be effective in avoiding tracheostomy or achieving early decannulation in patients with micro-retrognathic mandibles in hemifacial microsomia or Pierre Robin sequence. As the frequency of the application of MDO has increased, so has the awareness and management of subsequent complications from the procedure. In this study, we discuss a complication involving paresis and eventual recovery of cranial nerve (CN) VII after the application of an MDO internal device at our institution in two cases. We also review the literature and propose multiple anatomic considerations that can impact more than just the marginal branch of CN VII. Method This study is a retrospective case study from our institution and a review of the literature. Pubmed was queried for terms singularly and in combination including “mandibular distraction osteogenesis”, “facial nerve”, “cranial nerve”, “complications”, “micrognathia”, “retrognathia”. After reviewing the results, studies discussing complications of MDO that involved CN VII were reviewed and included. Results In the literature review and our retrospective review, CN VII injuries from MDO vary in their length and timing of onset. Management of this complication depended on the timing of onset and ranged from conservative management to removal of the distraction device. Majority (7/9) of the cases resolved to an eventual House-Brackmann of 0/6 with conservative measures. Conclusion Total facial nerve injury in association with MDO, has been scarcely reported, though the facial nerve is at great risk given its intimate location near the mandible particularly in neonates. It is encouraging that though it could be a devastating complication, out of all the cases reported, the large majority resolve with a combination of time and steroids.

Tympanostomy tube otorrhea (TTO) is a common complication of tympanostomy tubes. The most common bacteria associated with TTO include Haemophalis influenza, Moraxella catarrhalis, Streptococcus pneumoniae, Staphylococcus aureus, and Pseudomonas aeruginosa. We present the first case of a 9 year-old female with a history of 22q11 syndrome, hemifacial microsomia, Tetralogy of Fallot, and hearing aid dependence with left-sided profound sensorineural and right-sided moderate conductive hearing loss who presented with TTO caused by the bacteria Pigmentiphaga daeguenesis/kulla, a gram-negative bacteria often found in soil. This patient's otorrhea did not respond to typical otic antibiotic formulations, but was ultimately treated successfully with intramuscular ceftriaxone. We describe the natural history, presentation and management for a case of TTO caused by a rare bacteria from the genus Pigmentiphaga.

Background Total auricular reconstruction for hemifacial microsomia patients with extremely low hairline is a tough challenge in plastic surgery. In this work, a brand new technique using a singer expanded scalp flap without skin graft and combined with intense pulse light treatments (IPLT) for ear reconstruction is described in this special population. Methods From January 2015 to April 2019, 41 hemifacial macrosomia (HFM) patients with 70–100% low hairline were enrolled in our study. Operative treatment was performed in 3 stages: 1. Expander insertion and inflation; 2. Expander removal, costal cartilage framework fabrication and auricular reconstruction; 3. Tragus reconstruction and reconstructed auricle refinement. Several IPLTs were performed every 45 days until local area become hairless during the whole course. The first IPLT could be executed either before all the operations or during the expansion period. The flap was treated with M22 system using a filter of 695–1200 nm. Follow up ranged from 10 months to 4 years. Results During follow-up, 90.2% patients were surveyed as satisfied with the outcome, especially in the aspects of minimal scars, natural matched color and clear contour of the reconstructed ear. No serious complications happened. Patients starting the IPLT during the expansion period required less treatment times of depilation (p Conclusion Auricular reconstruction using a single expanded scalp flap combined with intense pulse light depilation is a safe, effective and less invasive technique for hemifacial microsomia with extremely low hairline, and providing highly satisfying results. Initialing the IPLD during the expansion period is recommended. Clinical question/level of evidence Therapeutic, IV.

Background: In Europe there have been few detailed reports on the clinical characteristics of microtia patient populations. The objective of the present study is to contribute to our insight of microtia in Europe by examining the Dutch microtia population treated in the University Medical Center Utrecht (UMCU) with regards to its clinical features and associated anomalies. In addition, an overview of the literature is provided for thorough comparison. Methods: A retrospective chart review was performed for all microtia patients referred to the UMCU for reconstructive surgery of the auricle over the period 1990-2012. Previous studies were identified by a systematic search of the electronic literature databases PubMed and Embase. In a subsequent meta-analysis the results from the literature review were pooled by geographical region to facilitate comparison. Results: A total of 204 microtia patients were referred for reconstructive surgery during 1990-2012. This group was characterized by a male predominance of 60.8%. Unilateral disease was observed in 91.7% of patients, affecting the right auricle in 66.3%. In unilateral patients lobule type microtia was seen in 59.9%, (small) concha type in 34.4% and anotia in 5.7%. The more frequent anomalies associated with microtia were atresia of the acoustic meatus (76.0%), preauricular skin tags (30.5%), hemifacial microsomia (27.5%), facial nerve paralysis (8.3%) and congenital heart disease (2.5%). Familial occurrence of microtia was reported for 2.0% of UMCU patients and for 10.0% of patients in the literature. Conclusion: The clinical characteristics of microtia in the Netherlands correspond to those reported for other patient populations in the literature. Most congenital anomalies associated with microtia in Dutch patients belong to the Oculo-Auriculo-Vertebral Spectrum. The considerable degree of familial microtia observed in the literature points to a substantial genetic component in the etiology of the condition. © 2014 Elsevier Ireland Ltd.

The Klippel–Feil syndrome is a congenital anomaly characterized by fusion of the cervical vertebrae. It is often associated with serious congenital anomalies of the nervous, cardiovascular and urogenital systems. One of the anomalies which have not been thoroughly investigated to date are that accompanying Klippel–Feil syndrome and enlarged Eustachian tube. We report a case of type III Klippel–Feil syndrome with associated rib anomalies such as hypoplastic and bifid ribs, scoliosis and elevated scapula (Sprengel's disease). The patient also presented hemifacial microsomia and central facial palsy of the lower right side of the face, urogenital and cardiovascular anomaly, congenital anorectal atresia and right-sided congenital aural atresia with microtia. Computer tomography of temporal bone showed abnormal extension of the right Eustachian tube with anomalies of the middle and inner ear on this particular side. In this case report we discuss the associated anomalies of the patient with Klippel–Feil syndrome. The aim of this case report is to draw attention to very rare case of patient with Klippel–Feil syndrome and enlarged pharyngotympanic tube.

Objective To study the epidemiologic characteristics of microtia in China and to investigate the possible risk factors with respect to the classification of microtia. Methods A total of 345 patients with microtia were studied. All patients were taken an intentional physical examination and classified into five types. A detailed questionnaire concerning the maternal conditions during pregnancy was filled out by patient's mother. The frequencies of the relative factors were counted and the variables were statistically analyzed using Chi Square and Fisher's tests in the five types of microtia. Results Most cases of microtia (88.12%) were sporadic and 72.75% of all cases occurred in males. It was more seen unilateral, especially affected on the right side (55.94%). A total of 195 patients (56.52%) were isolated microtia. In the rest of non-isolated microtia patients, 37.97% of the cases had hemifacial microsomia, which was the most common associated deformity. Thirty-four patients (9.86%) belonged to typical familial microtia. Three maternal factors showed significant differences in the five types of microtia, which were perinatal virus infection, high prior miscarriages and prevention treatments for threatened abortion. Conclusions The majority of microtia cases in China are sporadic and usually more common in males. Mothers who have prior miscarriages over 3 times or perinatal virus infection seem to be more likely to have severe microtia infants.

The oculoauriculovertebral dysplasia is a rare congenital malformation that is characterized by a hemifacial microsomia with ocular abnormalities and coexisting disorders in the spinal column and other organs. Characteristic features of the disease were first described by Maurice Goldenhar in 1952. A broad spectrum of hearing impairment is a result of complex malformations of the external ear, the middle ear and in some cases-the inner ear. The degree of hearing loss can range from mild to moderate conductive type in cases of chronic otitis media with effusion and severe to profound sensorineural hearing impairment with malformations of the inner ear in various forms of cochlear hypoplasia. This study focuses on surgical methods of hearing improvement in patients with the oculoauriculovertebral dysplasia (OAVD). We present 11 patients diagnosed with OAVD who are under supervision of the Institute of Physiology and Pathology of Hearing in Warsaw. It is, to our knowledge, one of the largest groups of patients reported by a single ORL medical center. The degree of hearing impairment was thoroughly described in all patients and individual treatment was introduced. The aim of this report was to present algorithm for diagnostics and treatment of symptoms of Goldenhar syndrome (GS) based upon methodology used in modern otosurgery.

Background Microvascular reconstruction of the pediatric mandible, particularly when necessitated by severe, congenital hypoplasia, presents a formidable challenge. Complex cases, however, may be simplified by computer-aided design/computer-aided manufacturing (CAD/CAM) assisted surgical planning. This series represents the senior authors’ preliminary experiences with CAD/CAM assisted, microvascular reconstruction of the pediatric mandible. Methods Presented are two patients with hemifacial/bifacial microsomia, both with profound mandibular hypoplasia, who underwent CAD/CAM assisted reconstruction of their mandibles with vascularized fibula flaps. Surgical techniques, CAD/CAM routines employed, complications, and long-term outcomes are reported. Results Successful mandibular reconstructions were achieved in both patients with centralization of their native mandibles and augmentation of deficient mandibular subunits. No long-term complications were observed. Conclusions CAD/CAM technology can be utilized in pediatric mandibular reconstruction, and is particularly beneficial in cases of profound, congenital hypoplasia requiring extensive, multi-planar, bony reconstructions.

Laryngeal cysts are heterogeneous in their clinical presentation and several classifications have been proposed. Here, we report the case of a foraminal laryngeal cyst in a 6 year-old child who also has hemi facial microsomia (HFM). The cyst was treated surgically with laryngotracheal endoscopy followed by cervicotomy. Histological analysis revealed different types of cystic wall epithelium. This case is the first report of a laryngeal cyst associated with HFM in the literature. We discuss the diagnostic challenges of these specific cystic pathologies, and their pathogenesis as part of an oculo-auriculo-vertebral spectrum. Several hypotheses are proposed, based mainly on characterization of their embryological origin.

We reported a 2-year-old boy with developmental delay, mild mental retardation, and severe craniofacial malformation, including facial asymmetry with hypoplasia of the left zygoma, maxilla, and mandible, and left anophthalmia and anotia. A genome-wide screen revealed a 1.38 Mb duplication on chromosome 1q31.1, which was absent in his parents and 27 healthy controls. The duplication region contains two Refseq genes, PLA2G4A and C1orf99, which have not been reported to be implicated in craniofacial malformation. Functional studies of these genes and additional clinical analysis are necessary to elucidate the pathogenesis of craniofacial malformation.

Summary To report results with the bone anchored hearing aid (BAHA) in children. Retrospective medical record review. Tertiary care children's hospital. Fourteen children with microtia/aural atresia underwent BAHA surgery. Mean age was 5.8 years. Data were collected concerning age, diagnoses, surgery, success of implantation, hearing, complications use of BAHA, speech reception thresholds (SRT), complications BAHA surgeries and revisions. Fifteen implants were placed by the author in 13 children. Eleven of 13 (84.6%) children are successfully using BAHAs (one bilateral) with a mean post operative SRT of 18.5 dB (range 14–25 dB). Mean interval between first and second stages was 7.3 months ( n = 12). Three unilateral implants were placed by a different surgeon in a child with severe hemifacial microsomia who developed complications treated by the author. Complications included poor healing requiring removal of three implants in one child, recurrent cellulitis of flap requiring revision ( n = 4), loss of implant ( n = 2), tearing of flap with dermatome due to tenting by healing screw ( n = 1), thin skull necessitating multiple drilling sites ( n = 1). BAHA surgery has a high success rate in children. The following recommendations may decrease complications: (1) 6-month period between stages in children with thin skulls, (2) thin flap with scalpel when it is tented by healing screw or infiltrate flap with local anesthetic to balloon it prior to using the dermatome for second stage cases, and (3) create extremely thin flap to prevent cellulitis.

Summary Objectives Review a large series of patients with Robin sequence to document the incidence of (1) associated syndromic diagnoses; (2) co-morbid conditions; (3) frequency and type of operative management for airway compromise and feeding difficulties; and (4) possible differences in treatment between syndromic and nonsyndromic infants. Methods Retrospective case-review of 115 patients with Robin sequence managed between 1962 and 2002 at two tertiary-care teaching hospitals for evaluation of demographic information, clinical findings, and treatment interventions. Results Fifty-four percent (N = 63) of patients were nonsyndromic. Syndromic patients included: Stickler syndrome (18%), velocardiofacial syndrome (7%), Treacher-Collins (5%), facial and hemifacial microsomia (3%), and other defined (3.5%) and undefined (9%) disorders. There was no statistical difference between the syndromic and nonsyndromic patients with regard to need for operative airway management (Fisher's exact test, p = 0.264). Forty-two percent of patients required a feeding gastrostomy tube to correct feeding difficulties. Patients with a syndromic diagnosis were more likely to be developmentally delayed. Fifty-one (44%) patients underwent operative airway management: 61% underwent tongue–lip adhesion and 39% underwent tracheotomy. Fifteen percent of patients initially had tongue–lip adhesion subsequently required tracheotomy. While the preferred treatment for respiratory compromise differed between the two institutions, the percentage of patients requiring operative intervention was similar. Conclusions The pathogenesis of Robin sequence is multifactorial and syndromic in nearly half of the patients. Operative treatment of respiratory failure was required in 44% of infants; the rate was similar in both hospitals. The operative approach differed significantly between the institutions, however, based on the philosophy and training of the managing surgical specialty. Co-morbid factors such as baseline cardiopulmonary and neurologic status did not play a significant role in surgical decision making.

Facial palsy associated with hemifacial microsomia results in a devastating deformity. To date, no attempts on early treatment of the associated facial palsy have been reported. A therapeutic approach may be to provide reinnervation to the affected muscles through a crossed facial nerve graft. The purpose of this paper is to present 8 cases of hemifacial microsomia with associated facial palsy. All these patients were treated before 1 year of age with cross-sural-to-facial nerve grafts. After a 1 year follow-up, clinical and electrodiagnostic results indicate axonal continuity through the graft and evidence of reinnervation activity in all patients. Crossed facial nerve grafting appears to be an adequate procedure in patients with hemifacial microsomia with associated facial palsy.