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Hemifacial microsomia

Debraj Howlader, Dichen P Bhutia, U Vignesh, Divya Mehrotra
Facial asymmetry is one of the commonest facial anomalies, with reported incidence as high as 34%. Hemifacial microsomia (HFM) has an incidence of 1 in every 4000-5600 children and is one of the commonest causes of facial asymmetry. The standard treatment of HFM is orthognathic surgery by bilateral saggital split osteotomy (BSSO) or distraction osteogenesis (DO) of the mandible, both of which involve prolonged periods of occlusal adjustments by an orthodontist. Here, we present distraction of the mandible by means of a novel modified step osteotomy to correct the facial asymmetry in a case of hemifacial microsomia without disturbing the occlusion...
September 2016: Journal of Oral Biology and Craniofacial Research
Jeylan El Mansoury, Joyce N Mbekeani
PURPOSE: To report the late recognition of a case oculo-auriculo-vertebral spectrum (OAVS). CASE REPORT: A 14-year-old male patient with a history of spinal scoliosis and anal atresia presented with a right ocular growth that was increasing in size and causing irritation. He was discovered to have a right limbal dermoid and forniceal lipodermoid. All visual functions were normal and the rest of the anterior and posterior segments were unremarkable. External examination revealed facial asymmetry and ipsilateral hemifacial microsomia and a pre-auricular skin tag...
October 13, 2016: Optometry and Vision Science: Official Publication of the American Academy of Optometry
Lora R Dagi Glass, Alexandra T Elliott
Current techniques for repairing large eyelid colobomas require preparation of other tissue sites and occasionally more than one procedure. We present a technique that requires only one procedure and is limited to the colobomatous eyelid; in addition, it is specifically designed to help avoid postoperative astigmatic and obstructive amblyopia. Outcomes are demonstrated in 3 cases of hemifacial microsomia. Large colobomas on the upper eyelid can be successfully and aesthetically repaired with only one procedure, incising only the congenitally abnormal eyelid...
September 21, 2016: Journal of AAPOS: the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus
E M Ongkosuwito, L van der Vlies, V Kraaij, N Garnefski, J W van Neck, A M Kuijpers-Jagtman, S E R Hovius
OBJECTIVE:   Examine stress levels of parents of children with hemifacial microsomia (HFM) and the relationship of parental stress to child characteristics and cognitive coping strategies. DESIGN:   Prospective cross-sectional study. PARTICIPANTS AND SETTING:   Parents with a child (age 3-19 years) with HFM (N = 31) were recruited through the Department of Orthodontics and the Craniofacial Center, Sophia-Erasmus Medical Center, Rotterdam, The Netherlands...
September 15, 2016: Cleft Palate-craniofacial Journal
Ruchi Bhuyan, Abhishek Ranjan Pati, Sanat Kumar Bhuyan, Bikash Bishwadarshee Nayak
Goldenhar Syndrome or oculoauriculovertebral spectrum is a complex syndrome characterized by an association of maxillomandibular hypoplasia, deformity of the ear, ocular dermoid and vertebral anomalies and the most severe form of hemifacial microsomia. Here, we describe a 26-year-old male patient with unilateral hemifacial microsomia, preauricular ear tags, macrosomia on the right side of the face.
May 2016: Journal of Oral and Maxillofacial Pathology: JOMFP
S M Balaji
INTRODUCTION: To report a single center's experience in correcting antimongoloid slant in Asian eyes using a minimally invasive approach. METHODS: Retrospective analysis of patients undergoing correction for antimongoloid slant at author's center, from 2007 to 2013 formed the study group. Concomitant surgical procedures were recorded. Pre- and post-operative photographs at the longest follow-up visit were analyzed and graded for functional and cosmetic outcomes...
January 2016: Annals of Maxillofacial Surgery
Hongbo Yu, Bo Wang, Minjiao Wang, Xudong Wang, Steve Guofang Shen
PURPOSE: To investigate the application of computer-assisted surgical planning and virtual guide in distraction osteogenesis for patients with hemifacial microsomia. METHODS: Eight patients diagnosed with unilateral hemifacial microsomia were enrolled in this study. Preoperative surgical planning and simulation were performed on three-dimensional model. Distraction was simulated on virtual model and the new morphology of the mandible was predicted. Mandibular ramus osteotomy and distractor implant was performed under the guidance of tooth-borne virtual guide...
September 2016: Journal of Craniofacial Surgery
Ting-Chen Lu, Gavin Chun-Wui Kang, Chuan-Fong Yao, Eric Jein-Wein Liou, Ellen Wen-Ching Ko, Zung-Chung Chen, Philip Kuo-Ting Chen
BACKGROUND: Timing of surgical intervention in hemifacial microsomia (HFM) is controversial. Although mandibular osteodistraction in childhood for HFM is popular, recent data for single-stage distraction in growing HFM patients demonstrated long-term relapse. Literature suggests that adolescents in the late mixed dentition age or permanent dentition age (11-16-year-old) had more stable outcomes post-distraction than younger children. We present favorable experience using single-treatment simultaneous maxillo-mandibular distraction in early adolescent Pruzansky-Kaban type II HFM patients...
September 2016: Journal of Cranio-maxillo-facial Surgery
Ryan M Mitchell, Babette S Saltzman, Susan J Norton, Robert G Harrison, Carrie L Heike, Daniela V Luquetti, Kathleen C Y Sie
OBJECTIVE:   To evaluate the association between craniofacial phenotype and hearing loss in children with craniofacial microsomia. DESIGN:   Retrospective cohort study. SETTING:   Tertiary care children's hospital. PATIENTS:   Individuals with craniofacial microsomia. MAIN OUTCOME MEASURES:   Ear-specific audiograms and standardized phenotypic classification of facial characteristics...
July 26, 2016: Cleft Palate-craniofacial Journal
Estelle Lopez, Marie Berenguer, Angèle Tingaud-Sequeira, Sandrine Marlin, Annick Toutain, Françoise Denoyelle, Arnaud Picard, Sabine Charron, Guilaine Mathieu, Harmony de Belvalet, Benoit Arveiler, Patrick J Babin, Didier Lacombe, Caroline Rooryck
BACKGROUND: Oculo-auriculo-vertebral spectrum (OAVS) is a developmental disorder involving first and second branchial arches derivatives, mainly characterised by asymmetric ear anomalies, hemifacial microsomia, ocular defects and vertebral malformations. Although numerous chromosomal abnormalities have been associated with OAVS, no causative gene has been identified so far. OBJECTIVES: We aimed to identify the first causative gene for OAVS. METHODS: As sporadic cases are mostly described in Goldenhar syndrome, we have performed whole exome sequencing (WES) on selected affected individuals and their unaffected parents, looking for de novo mutations...
June 29, 2016: Journal of Medical Genetics
Bibiana Vitković, Morena Milić
Goldenhar syndrome, also known as oculoauriculovertebral dysplasia, is a rare congenital condition characterized by facial, cranial, vertebral, ocular, auricular and cardiac abnormalities. This syndrome is associated with hemifacial microsomia due to inadequate growth of the mandible and vertebral anomaly of the cervical part of the spine. For anesthesiologists, airway management is of great interest because of facial and oral abnormalities such as mandibular hypoplasia and limitation of neck movement. Considering different conditions of Goldenhar syndrome, every patient should be preoperatively evaluated in order to make the plan for the anticipated difficult airway management...
March 2016: Acta Clinica Croatica
Tejeshwar Singh Jugpal, Jyoti Kumar, Swati Gupta, Anju Garg
We present a case of a 13-year-old boy with clinical features of Goldenhar syndrome (hemifacial microsomia with malformed ears) and associated contralateral pulmonary aplasia. The patient did not have any associated respiratory symptoms. Pulmonary aplasia is an uncommon association of Goldenhar Syndrome. A case of contralateral pulmonary aplasia has been rarely reported in the literature to the best of our knowledge.
January 2016: Journal of Radiology Case Reports
Pu Wang, Yue Fan, Xiaowei Chen
Oculo-auriculo-vertebral spectrum (OAVS), also known as Goldenhar syndrome, hemifacial microsomia, oculo-auriculo-vertebral dysplasia and facio-auriculo-vertebral spectrum, is a developmental disorder associated with the first and second branchial arches. Most cases are sporadic, while some familial instances observed suggested that the etiology of OAVS heterogeneous. In this review, we summarize the OAVS epidemiology, classification and mainlyheterogeneous etiology.
December 2015: Journal of Clinical Otorhinolaryngology, Head, and Neck Surgery
G Ian Taylor, Russell J Corlett, Mark W Ashton
BACKGROUND: The first successful free vascularized bone flap was performed on June 1, 1974 (and reported in 1975), using the fibula. This was followed by the iliac crest based on the superficial circumflex iliac artery in 1975 and then the deep circumflex iliac artery in 1978. METHODS: A total of 384 transfers using fibula (n = 198), iliac crest (n = 180), radius (n = 4), rib (n = 1), and metatarsal (n = 1) were used between June of 1974 and June of 2014 for reconstruction of the mandible (n = 267), maxilla (n = 20), clavicle (n = 1), humerus (n = 8), radius and ulna (n = 21), carpus (n = 3), pelvis (n = 2), femur (n = 11), tibia (n = 47), and foot bones (n = 4)...
April 2016: Plastic and Reconstructive Surgery
En Luo, Shimao Yang, Wen Du, Qianming Chen, Chuhang Liao, Wei Fei, Jing Hu
BACKGROUND: Hemifacial microsomia (HFM) is the second most common congenital craniofacial deformity after cleft lip and palate. Distraction osteogenesis (DO) is regarded as an alternative and efficient treatment option for patients with HFM. However, DO was not proven effective for all cases, and the results of long-term follow-up were not satisfactory as expected. Compared with DO, the orthognathic surgery approach may offer more stable clinical outcomes for this kind of disease. The purpose of this study is to evaluate the long-term clinical and radiographic outcome of bimaxillary orthognathic surgery in the treatment of adult HFM...
June 2016: Aesthetic Plastic Surgery
Mandakini Subhash Mandale, Jyoti Dilip Bhavthankar, Jayanti Govind Humbe, Pritam Kumar Mankapure
No abstract text is available yet for this article.
January 2016: Journal of Clinical and Diagnostic Research: JCDR
Daren Gibson, Raghav C Dwivedi, Christopher Bowles, Peter A Brennan
Anatomical variants that affect both the anterior and posterior digastric muscles are well described, and include duplications and variable origin or sites of insertion. Although agenesis or atrophy of the anterior digastric occurs in up to 40% of patients with hemifacial microsomia, to our knowledge, it has been reported only rarely in those without this syndrome. To minimise observer bias and to establish the incidence of anomalies and atrophy of this muscle, a prospective 6-year study was conducted by an experienced consultant radiologist in all patients referred for ultrasound of the head and neck...
April 2016: British Journal of Oral & Maxillofacial Surgery
K M Dentino, A Valstar, B L Padwa
The goal of this study was to describe the clinical characteristics and treatment outcomes of patients with hemifacial microsomia (HFM) and cleft lip/palate (CL/P), and to compare them to a historic cohort of patients with non-syndromic CL/P treated at the same centre. A retrospective review of patients with HFM and CL/P was performed; the main outcome measures assessed were cleft type/side, surgical outcome, midfacial retrusion, and speech. Twenty-six patients (13 male, 13 female; mean age 22.7±14.9, range 1-52 years) with cleft lip with/without cleft palate (CL±P) were identified: three with cleft lip (12%), two with cleft lip and alveolus and an intact secondary palate (8%), and 21 with cleft lip and palate (CLP) (81%; 15 unilateral and six bilateral)...
June 2016: International Journal of Oral and Maxillofacial Surgery
Mahtab Nouri, Arash Farzan
INTRODUCTION: Hemifacial microsomia (HFM) is a birth defect involving craniofacial structures derived from the first and second branchial arches. Although it is a relatively uncommon malformation, it is the second most common craniofacial birth defect after cleft lip and palate (CL/P). CASE PRESENTATION: This is a case report about the successful orthodontic treatment of a patient with mild hemifacial microsomia (HFM), using a non-surgical orthopedic and orthodontic treatment approach...
November 2015: Iranian Red Crescent Medical Journal
U D Shrestha, S Adhikari
Craniofacial microsomia (CFM) includes a spectrum of malformations primarily involving structures derived from the first and second branchial arches. Patients with hemifacial microsomia and epibulbar dermoids are said to have Goldenhar syndrome (GHS). Four-month-old boy with whitish pupillary reflex presented with the features of GHS in pediatric ophthalmology clinic. The child had ocular and auricular manifestations. There were no vertebral anomalies, but he had bilateral congenital cataract. The peculiarity of this case is the presence of the bilateral total congenital cataract, in association with CFM...
2015: Case Reports in Ophthalmological Medicine
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