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Hemifacial microsomia

Xiaojun Chen, Feng Xu, Fatao Liu, Zin Mar Aung, Wei Chen, Wenqing Han, Xianxian Yang, Yan Zhang, Gang Chai, Ruhong Zhang
Hemifacial microsomia (HFM) is the second most common congenital craniofacial malformation. Although many sporadic and familial cases have been studied to explore the etiology and pathogenesis of HFM, no common understanding has been reached. We aimed to further probe into the etiology of HFM through studying monozygotic twins. Here, we report two cases of pairs of monozygotic twins discordant for HFM, and performed whole-exome sequencing (WES) and bioinformatics analysis to help determine the underlying molecular mechanisms...
February 16, 2018: Journal of Cranio-maxillo-facial Surgery
Cosimo Nardi, Luisa De Falco, Valeria Selvi, Chiara Lorini, Linda Calistri, Stefano Colagrande
INTRODUCTION: Goldenhar syndrome is a rare disease with hemifacial microsomia and craniofacial disorders originating from the first and second branchial arches, such as ocular, auricular, and vertebral anomalies. The complexity and variety of the ways in which the disease presents itself usually need several examinations. In this study, we aimed to evaluate both craniofacial and vertebral skeletal anomalies and asymmetries between the nonaffected and affected sides in patients with Goldenhar syndrome by using cone-beam computed tomography...
February 2018: American Journal of Orthodontics and Dentofacial Orthopedics
Silvia Bragagnolo, Mileny E S Colovati, Malu Z Souza, Anelise G Dantas, Maria F F de Soares, Maria I Melaragno, Ana B Perez
The oculoauriculovertebral spectrum (OAVS) is characterized by anomalies involving the development of the first and second pharyngeal arches during the embryonic period. The phenotype is highly heterogeneous, involving ears, eyes, face, neck, and other systems and organs. There is no agreement in the literature for the minimum phenotypic inclusion criteria, but the primary phenotype involves hemifacial microsomia with facial asymmetry and microtia. Most cases are sporadic and the etiology of this syndrome is not well known...
January 25, 2018: American Journal of Medical Genetics. Part A
Christopher J Galea, Jason E Dashow, Jennifer E Woerner
Congenital deformities of the temporomandibular joint (TMJ) complex can present as a heterogeneous continuum of growth disturbances of the mandibular condyle, articular eminence, and temporal bone. This article describes several syndromes with congenital condylar deformity, including mandibulofacial dysostosis (Treacher Collins syndrome), hemifacial microsomia, oculoauriculovertebral syndrome, oculomandibulodyscephaly (Hallermann-Streiff syndrome), and Nager syndrome. Variations in the extent of TMJ deficiency seen in each individual case influence the timing and techniques of TMJ reconstruction...
February 2018: Oral and Maxillofacial Surgery Clinics of North America
Navid Pourtaheri, Derek Z Wang, Srinivas M Susarla, Gerhard S Mundinger, Anand R Kumar
PURPOSE: To assess the two- and three-dimensional airway changes following unilateral vertical mandibular distraction osteogenesis (vMDO) in patients with hemifacial microsomia (HFM). METHODS: A retrospective evaluation was performed for consecutive patients over an 18-month period with HFM and with Kaban-Pruzansky Type-II mandibular deformities who underwent unilateral vMDO for correction of vertical mandibular asymmetry. Patients with complete records and a minimum of 12 months of clinical follow-up post-consolidation were included...
December 2017: Journal of Cranio-maxillo-facial Surgery
Jonathan M Bekisz, Elise Fryml, Roberto L Flores
This study presents a systematic review of randomized controlled trials (RCTs) in cleft and craniofacial surgery. All studies reporting on RCTs in cleft and craniofacial surgery were identified on PubMed using the search terms "cleft," "velopharyngeal insufficiency," "velopharyngeal dysfunction," "nasoalveolar molding," "gingivoperiosteoplasty," "Pierre Robin sequence," "craniofacial," "craniosynostosis," "craniofacial microsomia," "hemifacial microsomia," "hypertelorism," "Le Fort," "monobloc," "distraction osteogenesis," "Treacher Collins," and "Goldenhar...
October 27, 2017: Journal of Craniofacial Surgery
T Z Chkadua, S V Abramyan, I I Sukharskiy, A R Arsenidze, T D Cholokava
The aim of the study was to assess the effectivity of auricular prosthesis on intraosseous implants in patient with grade III microtia. The study included 7 patients (5 males and 2 females) aged 18 to 45 years with hemifacial microsomia and grade III microtia operated in Central Research Institute of Dentistry and Maxillofacial Surgery in 2013-2016. Number and position of intraosseous implants was determined by reverse planning based on CT representing hard and soft facial structures. Patients were followed-up for 6-36 months...
2017: Stomatologii︠a︡
Kazuaki Yamaguchi, Daniel Lonic, Ellen Wen-Ching Ko, Lun-Jou Lo
BACKGROUND: Hemifacial microsomia (HFM) features hypoplasia and asymmetry in skeletal as well as soft tissue, and correction of the deformity is difficult in terms of aesthetic outcome. The purpose of this study is to examine the validity of an integrated treatment protocol for correction of this facial deformity. PATIENTS AND METHODS: A retrospective study was performed on adult HFM patients who received two-jaw orthognathic surgery combined with facial contouring procedures in the first stage, and fat injection for the residual facial deficiency in the second stage...
2017: PloS One
R B Song, M Kent, E N Glass, G J Davis, F A Castro, A de Lahunta
A 7-month-old domestic medium hair cat presented with facial asymmetry affecting the bony and soft tissue structures of the right side of the head including the maxilla, nose, eye and pinna of the ear. Additionally, neurological dysfunction of the facial and vestibulocochlear nerves on the affected side was present. A congenital malformation affecting the first and second embryologic pharyngeal arches was suspected. This is the first case of hemifacial microsomia of likely congenital origin reported in a cat...
July 18, 2017: Anatomia, Histologia, Embryologia
Divya Mehrotra, Debraj Howladar, Dichen P Bhutia
INTRODUCTION: The goal in treating Hemifacial microsomia (HFM) is to improve facial symmetry, allow functional jaw movement, obtain stable occlusion, and achieve patient satisfaction. This study was planned with an aim to assess the outcome of simultaneous maxillomandibular distraction osteogenesis in hemifacial microsomia. MATERIAL & METHODS: Seven patients with hemifacial microsomia were included in this study and demographic data was obtained. Simultaneous maxillo-mandibular distraction was planned for correction of maxillary cant, vertical ramal lengthening and midline, by performing unilateral mandibular osteotomy in ramus and distractor fixation, a Le Fort I osteotomy, with fixation at contralateral zygomatic buttress and intermaxillary elastics...
May 2017: Journal of Oral Biology and Craniofacial Research
Tyler R Halle, N Wendell Todd, Bruno P Soares
OBJECTIVES/HYPOTHESIS: We hypothesized that children with isolated nonsyndromic unilateral congenital aural atresia have subclinical mandibular condylar hypoplasia ipsilateral to the atretic ear, and that the Jahrsdoerfer score is associated with the degree of condylar hypoplasia. STUDY DESIGN: Retrospective self-controlled case series. METHODS: We reviewed high-resolution computed tomography scans of the temporal bones of 68 children with isolated nonsyndromic unilateral congenital aural atresia...
July 3, 2017: Laryngoscope
S Rengasamy Venugopalan, E G Farrow, M Lypka
OBJECTIVES: Craniofacial anomalies are complex and have an overlapping phenotype. Mandibulofacial Dysostosis and Oculo-Auriculo-Vertebral Spectrum are conditions that share common craniofacial phenotype and present a challenge in arriving at a diagnosis. In this report, we present a case of female proband who was given a differential diagnosis of Treacher Collins syndrome or Hemifacial Microsomia without certainty. Prior genetic testing reported negative for 22q deletion and FGFR screenings...
June 2017: Orthodontics & Craniofacial Research
Katarzyna Bogusiak, Aleksandra Puch, Piotr Arkuszewski
BACKGROUND: Progress in medical branches that has taken place since the first child with Goldenhare syndrome (GS) had been described in 1952 by Maurice Goldenhar, facilitated better understanding of this congenital defect. It also gave new perspectives and the opportunity to achieve satisfactory treatment results, mainly due to development of surgical techniques. DATA SOURCES: Based on the literature and own experience, we discussed the phenotype of presentation of GS, ethiopathogenesis, genetic counselling and treatment with particular emphasis on surgery correction of hemifacial microsomia...
October 2017: World Journal of Pediatrics: WJP
Marie Berenguer, Angele Tingaud-Sequeira, Mileny Colovati, Maria I Melaragno, Silvia Bragagnolo, Ana B A Perez, Benoit Arveiler, Didier Lacombe, Caroline Rooryck
Oculo-auriculo-vertebral spectrum (OAVS) is a developmental disorder characterized by hemifacial microsomia associated with ear, eyes and vertebrae malformations showing highly variable expressivity. Recently, MYT1, encoding the myelin transcription factor 1, was reported as the first gene involved in OAVS, within the retinoic acid (RA) pathway. Fifty-seven OAVS patients originating from Brazil were screened for MYT1 variants. A novel de novo missense variant affecting function, c.323C>T (p.(Ser108Leu)), was identified in MYT1, in a patient presenting with a severe form of OAVS...
September 2017: European Journal of Human Genetics: EJHG
Andrea Battisti, Andrea Cassoni Cassoni, Davina Bartoli, Marco Della Monaca, Giorgio Barbera, Edoardo Cerbelli, Valentino Valentini
AIM: We propose our experience in soft tissue reconstruction in Hemifacial microsomia using a free fascioadiposal flap. MATERIAL OF STUDY: Hemifacial microsomia (HFM) is a congenital disorder characterized by craniofacial malformation of one or both sides of the lower face. A 18-year-old female presented with hemifacial microsomia involving the left side. A free SCIA/SIEA fascioadiposal flap was transferred to the left face for soft tissue augmentation. RESULTS: The immediate postoperative course of the patient was uneventful, with no complication and adequate augmentation in contour deformity was achieved...
2017: Annali Italiani di Chirurgia
Nidhi Chhabra, Anuj Chhabra
BACKGROUND: Hemifacial microsomia is a congenital malformation characterized by deficiency in the amount of hard and soft tissue on one side of the face. It is primarily a syndrome of the first branchial arch, involving underdevelopment of the temporomandibular joint, masticatory muscles, mandibular ramus, ear and, occasionally, defects in facial nerve and muscles. CASE DETAILS: The clinical and radiological manifestations of a 14-year-old male patient having hemifacial microsomia is highlighted in this article to enhance our knowledge and diagnostic skill of this rare entity...
January 2017: Ethiopian Journal of Health Sciences
H Bertin, J Mercier, A Cohen, J Giordanetto, N Cohen, S H Lee, J P Perrin, P Corre
PURPOSE: Repair of the mandibular deformity in hemifacial microsomia (HFM) remains controversial, and there is scant information in the literature regarding the late outcomes. The aim of this study was to evaluate architectural and aesthetic long-term outcomes for primary mandibular surgery in patients with HFM. MATERIALS AND METHODS: Thirty-nine patients with types II and type III HFM were included in this retrospective study. Depending on the nature of the mandibular deformity, patients were treated using a costochondral graft (CCG) or a vertical ramus osteotomy (VRO)...
March 30, 2017: Journal of Cranio-maxillo-facial Surgery
Jin Qian, Zhibin Li, Tun Liu, Xu Zhou, Qingguo Zhang
BACKGROUND: Reconstruction of external ear is important for the child/adult with craniofacial deformities to achieve balance and harmony of the face and head. The aim of this study was to investigate the clinical application of an expanded two-flap method for auricular reconstruction in hemifacial microsomia. METHODS: Between January of 2014 and November of 2015, 111 hemifacial microsomia patients with microtia underwent auricular reconstruction with an expanded two-flap method...
May 2017: Plastic and Reconstructive Surgery
C Chandrakala, Parimalam Kumar, B Karpagam
No abstract text is available yet for this article.
March 2017: Indian Journal of Dermatology
Noah Cohen, Erica Cohen, Alberto Gaiero, Silvia Zecca, Graziella Fichera, Federica Baldi, Joseph Felix Giordanetto, Jacques Marie Mercier, Amnon Cohen
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...
May 2017: American Journal of Medical Genetics. Part A
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