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https://www.readbyqxmd.com/read/28643921/whole-exome-sequencing-identified-a-variant-in-eftud2-gene-in-establishing-a-genetic-diagnosis
#1
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
https://www.readbyqxmd.com/read/28641899/obstructive-sleep-apnoea-in-craniofacial-microsomia-analysis-of-755-patients
#2
C J J M Caron, B I Pluijmers, B D P J Maas, Y P Klazen, E S Katz, F Abel, M P van der Schroeff, I M J Mathijssen, D J Dunaway, C Mills, D S Gill, N Bulstrode, B L Padwa, E B Wolvius, K F M Joosten, M J Koudstaal
A retrospective cohort study was set up to analyse the prevalence and treatment of obstructive sleep apnoea (OSA) in relation to the severity of the deformity in patients with craniofacial microsomia (CFM). This study included a population of 755 patients with CFM from three craniofacial centres. Medical charts were reviewed for severity of the deformity, types of breathing difficulty, age at which breathing difficulty first presented, treatment for OSA, and treatment outcome. In total, 133 patients (17.6%) were diagnosed with OSA...
June 19, 2017: International Journal of Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/28623555/goldenhar-syndrome-current-perspectives
#3
REVIEW
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...
June 15, 2017: World Journal of Pediatrics: WJP
https://www.readbyqxmd.com/read/28612832/a-novel-de-novo-mutation-in-myt1-the-unique-oavs-gene-identified-so-far
#4
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...
June 14, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28604380/microsurgical-scia-siea-flap-for-facial-contour-correction-in-patient-with-hemifacial-microsomia
#5
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
https://www.readbyqxmd.com/read/28534125/salivary-glands-abnormalities-in-oculo-auriculo-vertebral-spectrum
#6
Davide Brotto, Renzo Manara, Stefania Vio, Sara Ghiselli, Elena Cantone, Rodica Mardari, Irene Toldo, Valentina Stritoni, Alessandro Castiglione, Elisa Lovo, Patrizia Trevisi, Roberto Bovo, Alessandro Martini
BACKGROUND: Feeding and swallowing impairment are present in up to 80% of oculo-auriculo-vertebral spectrum (OAVS) patients. Salivary gland abnormalities have been reported in OAVS patients but their rate, features, and relationship with phenotype severity have yet to be defined. MATERIAL AND METHODS: Parotid and submandibular salivary gland hypo/aplasia was evaluated on head MRI of 25 OAVS patients (16 with severe phenotype, Goldenhar syndrome) and 11 controls...
May 22, 2017: Clinical Oral Investigations
https://www.readbyqxmd.com/read/28458495/hemifacial-microsomia-clinicoradiological-insight-and-report-of-a-case
#7
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
https://www.readbyqxmd.com/read/28457824/surgical-correction-of-mandibular-hypoplasia-in-hemifacial-microsomia-a-retrospective-study-in-39-patients
#8
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
https://www.readbyqxmd.com/read/28445373/auricular-reconstruction-in-hemifacial-microsomia-with-an-expanded-two-flap-method
#9
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
https://www.readbyqxmd.com/read/28400648/hemifacial-microsomia-and-accessory-auricles-in-an-adolescent-boy
#10
C Chandrakala, Parimalam Kumar, B Karpagam
No abstract text is available yet for this article.
March 2017: Indian Journal of Dermatology
https://www.readbyqxmd.com/read/28359687/comparison-of-the-adult-three-dimensional-craniofacial-features-of-patients-with-unilateral-craniofacial-microsomia-with-and-without-early-mandible-distraction
#11
E W-C Ko, P K-T Chen, L-J Lo
This study was conducted to analyze the long-term facial growth of patients with craniofacial microsomia (CFM) after early mandible distraction osteogenesis (DO), and compared adult three-dimensional (3D) craniofacial features of patients with and without early mandibular DO for Pruzansky grade II deformities. The study included 20 patients: 9 with early mandible DO (the DO group) and 11 without previous treatment (the NDO group). Longitudinal radiographs were measured for growth changes after DO. The 3D craniofacial images were constructed to compare the craniofacial forms between the two groups...
July 2017: International Journal of Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/28350675/early-distraction-for-mild-to-moderate-unilateral-craniofacial-microsomia-long-term-follow-up-outcomes-and-recommendations
#12
Katie E Weichman, Jordan Jacobs, Parit Patel, Caroline Szpalski, Pradip Shetye, Barry Grayson, Joseph G McCarthy
BACKGROUND: There is controversy regarding the treatment of young patients with unilateral craniofacial microsomia and moderate dysmorphism. The relative indication for mandibular distraction in such patients poses several questions: Is it deleterious in the context of craniofacial growth and appearance? This study was designed to address these questions. METHODS: A retrospective review of patients undergoing mandibular distraction by a single surgeon between 1989 and 2010 was conducted...
April 2017: Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/28319315/maxillofacial-features-and-systemic-malformations-in-expanded-spectrum-hemifacial-microsomia
#13
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
https://www.readbyqxmd.com/read/28316925/reconstruction-of-nongrowing-hemifacial-microsomia-patient-with-custom-made-unilateral-temporomandibular-joint-total-joint-prosthesis-and-orthognathic-surgery
#14
Payam Farzad
A case of hemifacial microsomia in a young male is presented. The ascending ramus and condyle was reconstructed utilizing virtual 3D planning with a custom-made total TMJ device (TMJ Concepts, USA) in combination with conventional orthognathic surgery. The alternative available reconstructive options are discussed and the advantages and disadvantages of the technique selected.
January 2017: Journal of Oral Biology and Craniofacial Research
https://www.readbyqxmd.com/read/28296718/qualitative-methods-in-the-development-of-a-bilingual-and-bicultural-quality-of-life-outcomes-measure-for-pediatric-patients-with-craniofacial-conditions
#15
Viridiana Juarez Tapia, Julia Helene Drizin, Cecilia Dalle Ore, Marcelo Nieto, Yajahira Romero, Sandra Magallon, Rohith Nayak, Alicia Sigler, Vanessa Malcarne, Amanda Gosman
INTRODUCTION: Craniofacial surgeons treat patients with diverse craniofacial conditions (CFCs). Yet, little is known about the health-related quality of life (HRQoL) impact of diverse CFCs. Currently, there are no suitable instruments that measure the HRQoL of patients with diverse CFCs from the perspective of children and parents. The objective of this study was to develop the items and support the content validity of a comprehensive patient and parent-reported outcomes measure. METHODS: An iterative process consisting of a systematic literature review, expert opinion and in-depth interviews with patients and parents of patients with diverse CFCs was used...
May 2017: Annals of Plastic Surgery
https://www.readbyqxmd.com/read/28131459/hemilaryngeal-microsomia-an-anatomic-variant
#16
Matthew J Urban, Jillian Mattioni, Aaron Jaworek, Valeria Potigailo, Robert T Sataloff
OBJECTIVES: This study aims to describe a congenital laryngeal structural variant, hemilaryngeal microsomia (HLM), and to correlate identification on physical examination with computerized tomography scan (CT) and laryngoscopy findings. METHODS: The study was conducted at a tertiary care center. Six patients presenting with hoarseness were admitted to a tertiary care otolaryngology office. These patients had asymmetrical thyroid cartilage prominence on palpation during physical examination...
January 25, 2017: Journal of Voice: Official Journal of the Voice Foundation
https://www.readbyqxmd.com/read/27991024/-cooperation-between-the-plastic-surgery-and-the-head-neck-surgery-departments-in-the-treatment-of-unusual-cases-veszpr%C3%A3-m-hungary-2010-2015
#17
Zoltán Lóderer, József Piffkó, Károly Somlai, Gábor Bognár, Gábor Sándor
INTRODUCTION: Handling problems in the head and neck region often requires a close cooperation between allied professions, just as in the challenging cases presented by us. Cases and methodology: With the first patient, we performed a radical surgery on the left side of the face due to recidivious basal cell carcinoma, followed by reconstruction using a Type I chimeric anterolateral thigh flap (ALT), while in the case of the second patient, we carried out a radical surgery on the right side of the face due to epithelial carcinoma and reconstruction with a Type I chimeric thoracodorsal flap...
December 2016: Magyar Sebészet
https://www.readbyqxmd.com/read/27987254/application-of-free-serratus-anterior-fascial-flap-for-reconstruction-of-ear-deformity-due-to-hemifacial-microsomia-a-report-of-two-cases
#18
Takashi Nuri, Koichi Ueda, Akira Yamada
Reconstructing congenital auricular defects due to hemifacial microsomia (HFM) is often required to deal with low hairline and defects of the temporal fascia/muscular systems. In this report, we present two cases of HFM patients (16-year-old and 20-year-old) with positional anomaly of the remnant lobule and 95% low hairline, who were treated with serratus anterior fascial flap (SFF) at the second stage of auricular construction. At the first stage, 3D costal cartilage framework was placed following the removal of hair-bearing skin, and was resurfaced with the pericranial flap...
December 17, 2016: Microsurgery
https://www.readbyqxmd.com/read/27922961/costochondral-graft-in-young-children-with-hemifacial-microsomia
#19
Bin-Zhang Wu, Lian Ma, Yang Li, Shuo Chen, Biao Yi
Patients with severely hypoplastic mandibles usually require condylar reconstruction. This study aimed to describe costochondral graft (CCG) for condylar reconstruction and report subsequent outcomes of these grafts in young children with Pruzansky/Kaban type IIB and type III mandibular hypoplasia. This study included 4 young children with type IIB and type III hemifacial microsomia treated with CCG to reconstruct the condyle at the Department of Oral and Maxillofacial Surgery in our hospital from March 2008 to March 2014...
January 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/27895974/genetic-screening-in-patients-with-craniofacial-malformations
#20
REVIEW
Amanda J Yoon, Binh N Pham, Katrina M Dipple
Craniofacial malformations include a variety of anomalies, including cleft lip with or without cleft palate, craniosynostosis, microtia, and hemifacial microsomia. All of these anomalies can be either isolated or part of a defined genetic syndrome. A clinical geneticist or genetic counselor should be a member of the craniofacial team to help determine which patients have isolated anomalies and which are likely to have a syndrome. They would then arrange for the appropriate genetic testing to confirm the diagnosis of the specific syndrome...
December 2016: Journal of Pediatric Genetics
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