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Facial deformity

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https://www.readbyqxmd.com/read/29157190/mucopolysaccharidosis-type-vi-in-a-great-dane-caused-by-a-nonsense-mutation-in-the-arsb-gene
#1
Ping Wang, Carol Margolis, Gloria Lin, Elizabeth L Buza, Scott Quick, Karthik Raj, Rachel Han, Urs Giger
Mucopolysaccharidoses are inherited metabolic disorders that result from a deficiency of lysosomal enzymes required for the catabolism of glycosaminoglycans. Lysosomal glycosaminoglycan accumulation results in cell and organ dysfunction. This study characterized the phenotype and genotype of mucopolysaccharidosis VI in a Great Dane puppy with clinical signs of stunted growth, facial dysmorphia, skeletal deformities, corneal opacities, and increased respiratory sounds. Clinical and pathologic evaluations, urine glycosaminoglycan analyses, lysosomal enzyme assays, and ARSB sequencing were performed...
January 1, 2017: Veterinary Pathology
https://www.readbyqxmd.com/read/29153240/acquired-abnormalities-of-the-temporomandibular-joint
#2
REVIEW
Anne-Frédérique Chouinard, Leonard B Kaban, Zachary S Peacock
Mandibular growth is a complex process that involves the "functional matrix," an interaction of the muscles of mastication, occlusion, and jaw function. Although not a typical growth center, the mandibular condyle has a significant effect on the ultimate size, shape and function of the mandible and secondarily on overall facial form. Acquired temporomandibular joint (TMJ)/condylar abnormalities, such as juvenile idiopathic arthritis, idiopathic condylar resorption, TMJ ankylosis, and condylar hyperplasia, often result in facial deformity and functional deficits...
February 2018: Oral and Maxillofacial Surgery Clinics of North America
https://www.readbyqxmd.com/read/29149656/location-specific-mechanical-response-and-morphology-of-facial-soft-tissues
#3
Marco Pensalfini, Johannes Weickenmeier, Marga Rominger, Roberto Santoprete, Oliver Distler, Edoardo Mazza
The facial tissue of 9 healthy volunteers (m/f; age: 23-60y) is characterized at three different locations using a procedure combining suction measurements and 18MHz ultrasound imaging. The time-dependent and multilayered nature of skin is accounted for by adopting multiple loading protocols which differ with respect to suction probe opening size and rate of tissue deformation. Over 700 suction measurements were conducted and analyzed according to location-specific mechanical and morphological characteristics...
November 14, 2017: Journal of the Mechanical Behavior of Biomedical Materials
https://www.readbyqxmd.com/read/29145580/effect-of-botulinum-toxin-a-on-muscle-healing-and-its-implications-in-aesthetic-and-reconstructive-surgery
#4
Eldad Silberstein, Ehud Maor, Oleg Sukmanov, Alexander Bogdanov Berezovsky, Yaron Shoham, Yuval Krieger
Background: Muscle activity contributes to the enhancement of facial aging deformity, blepharospasm, cerebral palsy spasticity, trismus, torticollis, and other conditions. Myotomy of the involved muscles in order to reduce the deformity has variable success rates due to muscle healing and regeneration of activity. Objectives: The goal of this study was to investigate whether blocking striated muscle activity with Botulinum toxin (BtxA) during the healing time after myotomy alters the healing process and reduces long-term muscle activity...
November 14, 2017: Aesthetic Surgery Journal
https://www.readbyqxmd.com/read/29140903/cleft-related-orthognathic-surgery-based-on-maxillary-vertical-lengthening-of-the-anterior-facial-height
#5
Woo Shik Jeong, Hyung Hwa Jeong, Soon Man Kwon, Kyung S Koh, Jong Woo Choi
BACKGROUND: The conventional approach during orthognathic surgery for cleft-related deformities has largely focused on restoration of maxilla retrusion, using the maxillary advancement as a standard treatment objective. However, we thought the maxillary vertical shortening and deficient incisor show could be the additional key elements of cleft-related deformities. Although slight vertical lengthening can be obtained with only maxillary advancement, it would not be enough to obtain satisfactory aesthetical results in terms of the anterior facial height...
November 11, 2017: Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/29136349/clinical-delineation-of-a-subtype-of-frontonasal-dysplasia-with-creased-nasal-ridge-and-upper-limb-anomalies-report-of-six-unrelated-patients
#6
Daphné Lehalle, Umut Altunoglu, Ange-Line Bruel, Eric Arnaud, Patricia Blanchet, Jong-Woo Choi, Julie Désir, Esra Kiliç, Damien Lederer, Lucile Pinson, Christel Thauvin-Robinet, Amihood Singer, Julien Thevenon, Patrick Callier, Hulya Kayserili, Laurence Faivre
Frontonasal dysplasias are rare congenital malformations of frontonasal process-derived structures, characterized by median cleft, nasal anomalies, widely spaced eyes, and cranium bifidum occultum. Several entities of syndromic frontonasal dysplasia have been described, among which, to date, only a few have identified molecular bases. We clinically ascertained a cohort of 124 individuals referred for frontonasal dysplasia. We identified six individuals with a similar phenotype, including one discordant monozygous twin...
December 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29126455/micrognathia-with-temporomandibular-joint-ankylosis-and-obstructive-sleep-apnea-treated-with-mandibular-distraction-osteogenesis-using-skeletal-anchorage-a-case-report
#7
Hiroshi Tomonari, Hiroko Takada, Tomofumi Hamada, Sangho Kwon, Tsuyoshi Sugiura, Shouichi Miyawaki
BACKGROUND: We describe the case of a 16-year-old female patient with micrognathia, temporomandibular joint (TMJ) ankylosis, and obstructive sleep apnea, who was treated with mandibular distraction osteogenesis (DO) combined with sliding genioplasty, using skeletal anchorage. CASE PRESENTATION: We first performed interpositional arthroplasty, in which an interposition of fascia temporalis and surrounding fat tissue was inserted into the defect after bilateral condylectomy, increasing the maximum mouth opening from 5...
November 10, 2017: Head & Face Medicine
https://www.readbyqxmd.com/read/29122337/study-of-anatomical-variations-of-the-zygomaticofacial-foramen-and-calculation-of-reliable-reference-points-for-operation
#8
A Ferro, S Basyuni, C Brassett, V Santhanam
Dissection on to the facial aspect of the zygoma is common in procedures of the midface for trauma, craniofacial deformity, and cosmesis. These procedures carry the risk of injury to the neurovascular structures that exit from the zygomaticofacial foramen (ZFF). The purpose of this study was to map the ZFF, and to establish reliable reference points from which to identify it before and during operation. We also aimed to compare the anatomy of the ZFF between sexes and among geographical populations. A total of 429 adult skulls from nine geographical sites were used...
November 6, 2017: British Journal of Oral & Maxillofacial Surgery
https://www.readbyqxmd.com/read/29121166/characteristics-diagnosis-and-management-of-ehlers-danlos-syndromes-a-review
#9
Andrew W Joseph, Shannon S Joseph, Clair A Francomano, Theda C Kontis
Importance: Ehlers-Danlos syndromes (EDSs) are a group of heritable connective tissue disorders. Patients with EDSs can develop excessive facial rhytids, nasal deformities, and facial scarring, for which they may seek consultation with a facial plastic surgeon. Ehlers-Danlos syndromes can be associated with serious surgical complications and should be identified preoperatively to facilitate optimal treatment. To our knowledge, no management guidelines for patients with EDSs exist in the facial plastic surgery literature...
November 9, 2017: JAMA Facial Plastic Surgery
https://www.readbyqxmd.com/read/29119279/mechanical-stress-promotes-matrix-synthesis-of-mandibular-condylar-cartilage-via-the-rkip-erk-pathway
#10
Lian Sun, Jing Zhao, Hua Wang, Yongchu Pan, Lin Wang, Wei-Bing Zhang
Mandibular hypoplasia is a common jaw deformity that affects breathing, occlusal function and facial aesthetics. Stimulating mandibular condylar growing with functional appliances is an ordinary but controversial treatment method in orthodontics. Therefore, it is vital to clarify how functional appliances affect condylar growing. Raf-1 kinase inhibitor protein (RKIP), as an endogenous inhibitory molecule of the ERK signaling, is postulated to involve in stress-induced response to articular cartilage. This study was to reveal the role of RKIP in regulating cartilage matrix synthesis with functional appliance treatment...
December 2017: Journal of Molecular Histology
https://www.readbyqxmd.com/read/29119091/alar-width-changes-due-to-surgically-assisted-rapid-palatal-expansion-a-meta-analysis
#11
REVIEW
Kevin C Lee, Michael Perrino
A major objective of orthognatic surgery is the aesthetic outcome. Treatments only correcting for dentoskeletal deformities are not sufficient for optimal facial results because undesirable soft tissue changes may accompany skeletal manipulations. The primary objective of this study was to investigate alar base width (ABW) changes a minimum of 6 months following surgically-assisted rapid palatal expansion (SARPE). The following electronic databases and citation indices were searched: PubMed, Cochrane Library, Scopus, Web of Science, Embase, and Virtual Health Library...
October 2017: Journal of Orthodontic Science
https://www.readbyqxmd.com/read/29114430/clinical-and-radiographic-features-of-parry-romberg-syndrome
#12
Mithula Nair, Vidya Ajila, Shruthi Hegde, G Subhas Babu, Rumela Ghosh
Parry-Romberg syndrome or progressive hemifacial atrophy is a craniofacial disorder characterized by slow and progressive atrophy, generally unilateral, of facial tissues including muscles, bones and skin. The coup de sabre is a clear line of demarcation seen between the normal and abnormal structures. The severity of the facial deformity is dependent on the age of onset of the disease. Cosmetic management is the only available treatment and has to be delayed until facial growth is completed. The present case report deals with a 43-year-old woman with progressive hemifacial atrophy which started from the age of 10 months...
2017: J Istanb Univ Fac Dent
https://www.readbyqxmd.com/read/29106869/check-list-for-the-assessment-of-functional-impairment-in-children-with-congenital-aural-atresia
#13
Silvia Montino, Anna Agostinelli, Patrizia Trevisi, Alessandro Martini, Sara Ghiselli
OBJECTIVES: Congenital Aural Atresia (CAA) is a deformity of the external ear and it is commonly associated with malformations of middle and inner ear and, in some cases, with other facial deformities. Very few assessment measures exist for evaluating the functional impairment in children with CAA. Purpose of this study is to introduce and describe an assessment Checklist, (nominated FOS Checklist) that covers feeding abilities (F), oralmotor skills (O), communication/language development (S) in children with CAA...
November 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/29103441/enpp1-and-esr1-genotypes-associated-with-subclassifications-of-craniofacial-asymmetry-and-severity-of-temporomandibular-disorders
#14
Kay Chung, Tabitha Richards, Romain Nicot, Alexandre R Vieira, Christiane V Cruz, Gwénaël Raoul, Joel Ferri, James J Sciote
INTRODUCTION: We investigated whether ACTN3, ENPP1, ESR1, PITX1, and PITX2 genes which contribute to sagittal and vertical malocclusions also contribute to facial asymmetries and temporomandibular disorders (TMD) before and after orthodontic and orthognathic surgery treatment. METHODS: One hundred seventy-four patients with a dentofacial deformity were diagnosed as symmetric or subdivided into 4 asymmetric groups according to posteroanterior cephalometric measurements...
November 2017: American Journal of Orthodontics and Dentofacial Orthopedics
https://www.readbyqxmd.com/read/29095193/the-effectiveness-of-sternocleidomastoid-flap-versus-superficial-musculoaponeurotic-system-flap-for-the-prevention-of-frey-syndrome-and-facial-depressed-deformity-in-parotid-surgery-for-pleomorphic-adenoma
#15
Marco Manola, Luca Moscillo, Vittorio Simeon, Elena De Luca, Americo Mastella
The purpose of this study was to compare 2 types of reconstruction techniques: sternocleidomastoid (SCM) flap and superficial musculoaponeurotic system (SMAS) flap after partial parotidectomy (PP) for preventing Frey syndrome (FS) and concave facial depressed deformity. A total of 99 patients underwent PP for pleomorphic adenoma of the parotid gland. The patients were divided in 2 groups according to the dimension of the tumor: tumors less than 3 cm (group A, 47 patients) and tumors greater than or equal to 3 cm (group B, 52 patients)...
October 31, 2017: Annals of Plastic Surgery
https://www.readbyqxmd.com/read/29092974/breast-reconstruction-in-a-patient-with-noonan-syndrome
#16
Basel Sharaf, Mohamed Diya Sabbagh, Si-Gyun Roh
Noonan syndrome (NS) is a relatively common genetic disorder with an autosomal dominant inheritance pattern affecting 1 in 1000-2500 births. Patients with this syndrome present with characteristic facial, musculoskeletal, cardiac and endocrine abnormalities. Lack of postpubertal breast development is a common manifestation of this syndrome and may result in severe hypomastia and a masculine appearance of the female chest. We report the first case of breast reconstruction in a 24-year-old woman with NS who lacked postpubertal breast development...
November 1, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/29090197/surgical-management-of-localized-scleroderma
#17
Jae Hyun Lee, Soo Yeon Lim, Jang Hyun Lee, Hee Chang Ahn
BACKGROUND: Localized scleroderma is characterized by a thickening of the skin from excessive collagen deposits. It is not a fatal disease, but quality of life can be adversely affected due to changes in skin appearance, joint contractures, and, rarely, serious deformities of the face and extremities. We present six cases of localized scleroderma in face from our surgical practice. METHODS: We reviewed six localized scleroderma cases that were initially treated with medication and then received follow-up surgery between April 2003 and February 2015...
September 2017: Arch Craniofac Surg
https://www.readbyqxmd.com/read/29074445/fibrous-condylar-dysplasia-resection-and-reconstruction-with-a-custom-made-tmj-prosthesis-using-virtual-surgical-planning
#18
M Fernández-Ferro, J Fernández-Sanromán, A Costas-López, A López-Betancourt
The main objective of this article is to describe the indications for custom-made alloplastic reconstruction of the temporomandibular joint (TMJ) using the new techniques of virtual surgical planning and computer-aided design/computer-aided manufacturing (CAD/CAM) technology through the study of a clinical case and an updated review of the literature. The patient was a 45-year-old male with a fast-growing condylar dysplasia that produced a progressive facial deformity with limited mandibular mobility, which required a radical resection...
October 23, 2017: Journal of Stomatology, Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/29068964/an-algorithm-for-managing-intraosseous-vascular-anomalies-of-the-craniofacial-skeleton
#19
Kathryn V Isaac, Tara Lynn Teshima, Richard I Aviv, Mahmood Fazl, Leodante da Costa, Todd Mainprize, Oleh Antonyshyn
BACKGROUND: Intraosseous vascular anomalies (IOVA) are rare in the craniofacial skeleton and present a diagnostic and therapeutic challenge. This study aims to describe the clinical management based on a large case series. METHODS: A retrospective chart review was performed and 9 IOVA were identified over a 15-year period. Data on demographics, diagnostic features, clinical management, and outcomes were reviewed. RESULTS: Five frontal bone IOVA and 4 orbital IOVA were identified...
October 24, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/29045031/the-triangular-rotation-advancement-flap-for-congenital-longitudinal-earlobe-cleft
#20
Niharika Padhy, Devi Prasad Mohapatra, Friji M T, Ravi Kumar Chittoria, S Dinesh Kumar, Sudhanva Hemant Kumar, Elankumar Subbarayan
The Earlobe is an essential part of the facial aesthetics. Almost all cultures of the world use the earlobe for improving their appearances. Deformities or absence of the earlobe is a cause of distress to many individuals. This article is protected by copyright. All rights reserved.
October 16, 2017: Clinical Otolaryngology
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