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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/27891784/characterizing-facial-features-in-individuals-with-craniofacial-microsomia-a-systematic-approach-for-clinical-research
#2
Carrie L Heike, Erin Wallace, Matthew L Speltz, Babette Siebold, Martha M Werler, Anne V Hing, Craig B Birgfeld, Brent R Collett, Brian G Leroux, Daniela V Luquetti
BACKGROUND: Craniofacial microsomia (CFM) is a congenital condition with wide phenotypic variability, including hypoplasia of the mandible and external ear. We assembled a cohort of children with facial features within the CFM spectrum and children without known craniofacial anomalies. We sought to develop a standardized approach to assess and describe the facial characteristics of the study cohort, using multiple sources of information gathered over the course of this longitudinal study and to create case subgroups with shared phenotypic features...
November 2016: Birth Defects Research. Part A, Clinical and Molecular Teratology
https://www.readbyqxmd.com/read/27882130/the-use-of-expanded-polytetrafluoroethylene-in-depressed-deformities-of-the-face
#3
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
#4
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
#5
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/27763969/orbital-expansion-for-congenital-anophthalmia-may-be-achievable-in-infancy-but-not-in-childhood
#6
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
https://www.readbyqxmd.com/read/27761391/a-novel-step-osteotomy-for-correction-of-hemifacial-microsomia-a-case-report
#7
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
#8
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/27712817/craniofacial-microsomia
#9
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
https://www.readbyqxmd.com/read/27664845/large-upper-eyelid-coloboma-repair-a-one-stage-one-site-technique
#10
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
#11
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/27632762/prevalence-of-renal-and-cervical-vertebral-anomalies-in-patients-with-isolated-microtia-and-or-aural-atresia
#12
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
https://www.readbyqxmd.com/read/27617809/efficacy-of-standard-costochondral-grafting-in-patients-with-bilateral-craniofacial-microsomia
#13
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
https://www.readbyqxmd.com/read/27601832/goldenhar-syndrome-a-rare-case-report
#14
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
#15
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/27562683/unilateral-endonasal-transcribriform-approach-with-septal-transposition-for-olfactory-groove-meningioma-can-olfaction-be-preserved
#16
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
https://www.readbyqxmd.com/read/27526230/computer-assisted-distraction-osteogenesis-in-the-treatment-of-hemifacial-microsomia
#17
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/27516845/patient-specific-implant-for-residual-facial-asymmetry-following-orthognathic-surgery-in-unilateral-craniofacial-microsomia
#18
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
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
#19
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/27476356/congenital-and-acquired-mandibular-asymmetry-mapping-growth-and-remodeling-in-3-dimensions
#20
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
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