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Hemifacial microsomia

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https://www.readbyqxmd.com/read/27895974/genetic-screening-in-patients-with-craniofacial-malformations
#1
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
https://www.readbyqxmd.com/read/27882130/the-use-of-expanded-polytetrafluoroethylene-in-depressed-deformities-of-the-face
#2
Xiaowei Liu, Yiming Zhang, Shaoliang Wang, Zeyuan Lei, Xiang Li, Dongli Fan
Expanded polytetrafluoroethylene (ePTFE) has been extensively used for facial soft tissue augmentation procedures, and is regarded as safe and reliable and suitable as a permanent implant. This implant is generally used in the lower third of the face for lips filling, nasal augmentation, nasolabial folds and chin augmentation, and rarely for congenital or acquired depressed deformities of the face. The aim of the present study was to assess the effects of ePTFE in congenital or acquired depressed deformities of the face...
November 2016: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/27875515/reconstruction-of-congenital-mandibular-hypoplasia-with-microvascular-free-fibula-flaps-in-the-pediatric-population-a-paradigm-shift
#3
Emily C Cleveland, Jamie Zampell, Tomer Avraham, Z-Hye Lee, David Hirsch, Jamie P Levine
BACKGROUND: The microvascular free fibula flap has become the gold standard for reconstruction of complex mandibular defects since its description by Hidalgo in 1989. Prior studies have demonstrated its safety and efficacy in the pediatric population. However, this reconstructive method is often used only as a last resort for correction of congenital mandibular hypoplasia, after failure of bone grafting and distraction osteogenesis. The authors describe our experience using this technique, facilitated by virtual planning and prefabricated cutting jigs, for children with severe congenital mandibular hypoplasia...
November 21, 2016: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/27843263/goldenhar-syndrome-a-case-report-with-review
#4
Mridula Goswami, Urvashi Bhushan, Babita Jangra
: Goldenhar syndrome is a rare condition which is characterized by a multitude of anomalies involving craniofacial structures, vertebrae, internal organs and usually occurs unilaterally. The etiology of this syndrome is unclear since it varies genetically and is linked to a plethora of reasons. Herein, we report a case of Goldenhar syndrome with hemifacial microsomia and microtia along with systemic involvement which was clinically and radio-graphically assessed. Many classical signs of the syndrome were present in the patient along with few rare ones...
July 2016: International Journal of Clinical Pediatric Dentistry
https://www.readbyqxmd.com/read/27761391/a-novel-step-osteotomy-for-correction-of-hemifacial-microsomia-a-case-report
#5
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
https://www.readbyqxmd.com/read/27755235/late-recognition-of-a-case-of-oculo-auriculo-vertebral-spectrum
#6
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
https://www.readbyqxmd.com/read/27664845/large-upper-eyelid-coloboma-repair-a-one-stage-one-site-technique
#7
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
https://www.readbyqxmd.com/read/27632763/parental-stress-in-parents-of-a-child-with-hemifacial-microsomia-the-role-of-child-characteristics-and-parental-coping-strategies
#8
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
https://www.readbyqxmd.com/read/27601832/goldenhar-syndrome-a-rare-case-report
#9
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
https://www.readbyqxmd.com/read/27563607/lateral-canthal-repositioning-in-syndromic-antimongoloid-slant
#10
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
https://www.readbyqxmd.com/read/27526230/computer-assisted-distraction-osteogenesis-in-the-treatment-of-hemifacial-microsomia
#11
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
https://www.readbyqxmd.com/read/27499513/simultaneous-maxillo-mandibular-distraction-in-early-adolescence-as-a-single-treatment-modality-for-durable-correction-of-type-ii-unilateral-hemifacial-microsomia-follow-up-till-completion-of-growth
#12
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
https://www.readbyqxmd.com/read/27458649/hearing-loss-in-children-with-craniofacial-microsomia
#13
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
https://www.readbyqxmd.com/read/27358179/mutations-in-myt1-encoding-the-myelin-transcription-factor-1-are-a-rare-cause-of-oavs
#14
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
https://www.readbyqxmd.com/read/27276779/airway-management-with-direct-laryngoscopy-in-a-child-with-goldenhar-syndrome
#15
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
https://www.readbyqxmd.com/read/27200154/goldenhar-syndrome-with-contralateral-pulmonary-aplasia-a-rare-association
#16
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
https://www.readbyqxmd.com/read/27093828/-the-etiology-research-progress-of-oculo-auriculo-vertebral-spectrum
#17
REVIEW
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
https://www.readbyqxmd.com/read/27018684/the-evolution-of-free-vascularized-bone-transfer-a-40-year-experience
#18
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
https://www.readbyqxmd.com/read/26908014/bimaxillary-orthognathic-approach-to-correct-skeletal-facial-asymmetry-of-hemifacial-microsomia-in-adults
#19
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
https://www.readbyqxmd.com/read/26894197/clinico-radiologic-perspective-of-a-case-of-hemifacial-microsomia
#20
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
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