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Brad T Morrow, William B Albright, Rogerio I Neves, Michael J Wilkinson, Thomas D Samson
BACKGROUND: Congenital anophthalmia is a rare anomaly that results in micro-orbitism and craniofacial microsomia. Treatment with static conformers is labor-intensive and provides minimal stimulation for orbital growth that requires eventual reconstruction with orbital osteotomies after skeletal maturity. METHODS: A protocol for the treatment of congenital anophthalmia is presented. Patients underwent a preoperative low-dose radiation computed tomography (CT) scan of the facial bones to assess orbital volume...
October 2016: Journal of Craniofacial Surgery
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
Kathleyn A Brandstetter, Krishna G Patel
Craniofacial microsomia (CFM) encompasses a broad spectrum of phenotypes. It is thought to result from defective development of the first and second pharyngeal arch structures, and generally presents with anomalies of the mandible and other facial bones, ears, and overlying soft tissues. The cause of CFM is thought to involve both extrinsic and genetic risk factors. Several classification systems have been developed to help stratify patients based on the severity of their defects. Treatment of patients includes repair of bony asymmetry as well as soft tissue defects and auricular anomalies...
November 2016: Facial Plastic Surgery Clinics of North America
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
Shane Zim, Janet Lee, Brian Rubinstein, Craig Senders
OBJECTIVE:   The objective of this study was to determine whether patients with isolated microtia or aural atresia have an increased prevalence of renal or cervical vertebral anomalies. DESIGN:   The study design was a retrospective medical record review. SETTING:   The setting was the following four distinct institutions: an urban tertiary care children's hospital, two urban academic medical centers, and a staff-model health maintenance organization...
September 15, 2016: Cleft Palate-craniofacial Journal
Arman T Serebrakian, Michael S Golinko, Michael Alperovich, Christopher M Runyan, David A Staffenberg
Craniofacial microsomia remains the second most common craniofacial deformity after cleft lip and palate. Mandibular pathology has been classically scored from type I to type III by the modified Pruzansky-Kaban classification. The authors report a case of a 5-year-old patient with Goldenhar syndrome and bilateral type III craniofacial macrosomia. The patient had absence of bilateral glenoid fossas, condyles, coronoids, and rami as well as hypoplasia of the symphysis, parasymphysis, and mandibular body. Reconstruction was performed using 2 costochondral rib autografts to reconstruct a ramus and assist in the development of a neo-glenoid fossa at the cranial base...
October 2016: Journal of Craniofacial Surgery
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
A Samy Youssef, Raghuram Sampath, Jacob L Freeman, Jameson K Mattingly, Vijay R Ramakrishnan
BACKGROUND: Loss of olfaction has been considered inevitable in endoscopic endonasal resection of olfactory groove meningiomas. Olfaction preservation may be feasible through an endonasal unilateral transcribriform approach, with the option for expansion using septal transposition and contralateral preservation of the olfactory apparatus. METHODS: An expanded unilateral endonasal transcribriform approach with septal transposition was performed in five cadaver heads...
October 2016: Acta Neurochirurgica
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
Femke Staal, Britt Pluijmers, Eppo Wolvius, Maarten Koudstaal
Craniofacial microsomia (CFM) is a congenital anomaly with a variable phenotype. The most prominent feature of CFM is a predominantly unilateral hypoplasia of the mandible, leading to facial asymmetry. Even after correction of the midline, there is often a remaining hard- and soft-tissue deficiency over the body of the mandible and cheek on the affected side. This clinical report describes the skeletal augmentation of the mandible with a patient-specific implant to treat residual facial asymmetry in two female patients with unilateral CFM...
September 2016: Craniomaxillofacial Trauma & Reconstruction
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
R Christian Solem, Antonio Ruellas, Arthur Miller, Katherine Kelly, Joni L Ricks-Oddie, Lucia Cevidanes
INTRODUCTION: Disordered craniofacial development frequently results in definitive facial asymmetries that can significantly impact a person's social and functional well-being. The mandible plays a prominent role in defining facial symmetry and, as an active region of growth, commonly acquires asymmetric features. Additionally, syndromic mandibular asymmetry characterizes craniofacial microsomia (CFM), the second most prevalent congenital craniofacial anomaly (1:3000 to 1:5000 live births) after cleft lip and palate...
August 2016: American Journal of Orthodontics and Dentofacial Orthopedics
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
Brian A Walker, Babette S Saltzman, Erin P Herlihy, Daniela V Luquetti
The purpose of this study was to characterize the phenotypic presentation, clinical course, and outcomes of epibulbar dermoids (EpDs) which are the most common congenital eye tumor in children. Sixty-eight dermoids were identified in 58 eyes of 48 patients of Seattle Children's Hospital between 1981 and 2014 via electronic medical record search. Patients were organized into: "EpD-Only" [patients without other congenital anomalies (n = 13)], "EpD-CFM" [patients with a craniofacial microsomia (CFM) diagnosis (n = 25)], and "EpD-Other" [patients with other congenital anomalies (n = 10)]...
July 12, 2016: International Ophthalmology
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
Viridiana J Tapia, Sherise Epstein, Oresta S Tolmach, Abdul S Hassan, Natalie N Chung, Amanda A Gosman
BACKGROUND: Treatment for patients with diverse craniofacial conditions is complex and long-term. Craniofacial conditions profoundly influence health-related quality of life, and patient- and parent-reported outcomes provide a critical and complementary perspective on the multidisciplinary treatment of patients. However, little is known regarding the health-related quality of life among children with diverse craniofacial conditions. The purpose of this study was to systematically review the literature regarding patient- and parent-reported outcomes measures for patients with diverse craniofacial conditions...
July 2016: Plastic and Reconstructive Surgery
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
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