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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
Daniela V Luquetti, Michelle R Brajcich, Nicola M Stock, Carrie L Heike, Alexis L Johns
OBJECTIVE: Craniofacial microsomia (CFM) is primarily characterized by underdevelopment of the ear and mandible, with several additional possible congenital anomalies. Despite the potential burden of care and impact of CFM on multiple domains of functioning, few studies have investigated patient and caregiver perspectives. The objective of this study was to explore the diagnostic, treatment-related, and early psychosocial experiences of families with CFM with the aim of optimizing future healthcare delivery...
April 2018: International Journal of Pediatric Otorhinolaryngology
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
Zakia Hammal, Jeffrey F Cohn, Erin R Wallace, Carrie L Heike, Craig B Birgfeld, Harriet Oster, Matthew L Speltz
OBJECTIVE: To compare facial expressiveness (FE) of infants with and without craniofacial macrosomia (cases and controls, respectively) and to compare phenotypic variation among cases in relation to FE. DESIGN: Positive and negative affect was elicited in response to standardized emotion inductions, video recorded, and manually coded from video using the Facial Action Coding System for Infants and Young Children. SETTING: Five craniofacial centers: Children's Hospital of Los Angeles, Children's Hospital of Philadelphia, Seattle Children's Hospital, University of Illinois-Chicago, and University of North Carolina-Chapel Hill...
January 1, 2018: Cleft Palate-craniofacial Journal
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
Erin R Wallace, Brent R Collett, Carrie L Heike, Martha M Werler, Matthew L Speltz
OBJECTIVE: The objective was to assess differences in psychosocial adjustment between adolescents with and without craniofacial microsomia (CFM). DESIGN: This is a case-control follow-up study in adolescents with and without CFM. SETTING: Participants were originally recruited as infants from 26 cities across the United States and Canada. PARTICIPANTS: Participants included 142 adolescents with CFM (cases) and 316 peers without CFM (controls), their caregivers, and their teachers...
January 1, 2018: Cleft Palate-craniofacial Journal
Jae Yeon Park, Seil Lee, Hyo Joong Kim, Sung Gyun Jung
Preauricular sinus is a congenital malformation that is very commonly encountered among the general population and it has especially high prevalence among Asians when compared to other ethnic groups. It can often go unnoticed or easily overlooked by the patient or even by doctors because most of them are asymptomatic and is most of the time only a tiny pit that can be trivial in terms of aesthetics. We report a very rare and unique case that has no precedence what so ever; hence no reported case in the literature: an ectopic preauricular sinus in a facial cleft and microsomia patient...
December 2017: Archives of Craniofacial Surgery
Samira Spineli-Silva, Luciana M Bispo, Vera L Gil-da-Silva-Lopes, Társis P Vieira
Craniofacial Microsomia (CFM) also known as Oculo-auriculo-vertebral Spectrum (OAVS) or Goldenhar Syndrome, presents wide phenotypic and etiological heterogeneity. It affects mainly the structures originated from the first and second pharyngeal arches. In addition, other major anomalies may also be found, including congenital heart diseases. In this study, we report a patient with distal deletion in the 22q11.2 region and a phenotype which resembles CFM. The proband is a girl, who presented bilateral preauricular tags, left auditory canal stenosis, - malar hypoplasia, cleft lip and palate, mild asymmetry of soft tissue in face, congenital heart disease, intestinal atresia, annular pancreas and hydronephrosis...
December 27, 2017: European Journal of Medical Genetics
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
Sophia Marie Häußler, Carmen Stromberger, Heidi Olze, Georg Seifert, Steffen Knopke, Arne Böttcher
OBJECTIVE: The purpose of this study was to assess rhabdomyosarcomas (RMS) of the head and neck in pediatric patients with regard to clinical presentation, treatment, and survival. METHODS: Data were retrospectively obtained from patient charts with regard to RMS of the head and neck diagnosed between 1996 and 2016 at a tertiary referral center. Clinical course, treatment modalities, and side effects were analyzed. Survival analysis was carried out using the Kaplan-Meier method...
November 16, 2017: Journal of Cancer Research and Clinical Oncology
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
Lara S van de Lande, Cornelia J J M Caron, Britt I Pluijmers, Koen F M Joosten, Marloes Streppel, David J Dunaway, Maarten J Koudstaal, Bonnie L Padwa
Craniofacial microsomia (CFM) is characterized by underdevelopment of the structures derived from the first and second pharyngeal arches resulting in aesthetic, psychological, and functional problems including feeding and swallowing difficulties. The aim of this study is to gain more insight into swallowing difficulties in patients with CFM. A retrospective study was conducted in the population of patients diagnosed with CFM at three major craniofacial units. Patients with feeding difficulties and those who underwent video fluoroscopic swallow (VFS) studies were included for further analyses...
November 4, 2017: Dysphagia
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
Rachel S Mandelbaum, Elizabeth J Volpicelli, Deborah B Martins, Sarah H Park, Emily Dubina, Akira Ishiyama, James P Bradley, Justine C Lee
BACKGROUND: In craniofacial microsomia, microtia and canal atresia pose formidable reconstructive challenges. We review our institutional experience in treating microtia and atresia to identify variables associated with 4 outcomes measures: complications, surgical revisions, aesthetic outcomes, and psychosocial function. METHODS: Craniofacial microsomia patients treated at the University of California Los Angeles Craniofacial Clinic between 2008 and 2014 greater than 13 years of age (n = 68) were reviewed for microtia and atresia treatment and outcomes...
September 2017: Plastic and Reconstructive Surgery. Global Open
Anthony J Archual, Jonathan S Black
Craniofacial microsomia (CFM) is a common craniofacial anomaly characterized by asymmetric malformation of the mandible, ear, and other structures including the upper airway. The degree of mandibular hypoplasia is classified using a scheme developed by Pruzansky and modified by Kaban. Severe condylar dysplasia is the hallmark of Pruzansky-Kaban types IIB and III. Distraction osteogenesis has emerged as a treatment modality for mandibular hypoplasia in this setting for the treatment of asymmetry and airway obstruction...
November 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
Matthew L Speltz, Erin R Wallace, Brent R Collett, Carrie L Heike, Daniela V Luquetti, Martha M Werler
BACKGROUND: The authors compared the IQ and academic achievement of adolescents with craniofacial microsomia (cases) and unaffected children (controls). Among cases, the authors analyzed cognitive functioning by facial phenotype. METHODS: The authors administered standardized tests of intelligence, reading, spelling, writing, and mathematics to 142 cases and 316 controls recruited from 26 cities across the United States and Canada. Phenotypic classification was based on integrated data from photographic images, health history, and medical chart reviews...
September 2017: Plastic and Reconstructive Surgery
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
S C Schaal, C Ruff, B I Pluijmers, E Pauws, C W N Looman, M J Koudstaal, D J Dunaway
The aim of this study was to compare the anatomical differences in the skull base between the affected and non-affected side in patients with craniofacial microsomia (CFM), and to compare the affected and non-affected sides with measurements from a normal population. Three-dimensional computed tomography scans of 13 patients with unilateral CFM and 19 normal patients (age range 7-12 years) were marked manually with reliable homologous landmarks. Principal component analysis (PCA), as part of a point distribution model (PDM), was used to analyse the variability within the normal and preoperative CFM patient groups...
July 31, 2017: International Journal of Oral and Maxillofacial Surgery
R W Renkema, C J J M Caron, E B Wolvius, D J Dunaway, C R Forrest, B L Padwa, M J Koudstaal
Extracraniofacial anomalies, including central nervous system (CNS) anomalies, may occur in craniofacial microsomia (CFM). This systematic review was performed to provide an overview of the literature on the prevalence and types of CNS anomalies and developmental disorders in CFM, in order to improve the recognition and possible treatment of these anomalies. A systematic search was conducted and data on the number of patients, patient characteristics, type and prevalence of CNS anomalies or developmental delay, and correlations between CFM and CNS anomalies were extracted...
July 20, 2017: International Journal of Oral and Maxillofacial Surgery
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