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Craniofacial deformity

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https://www.readbyqxmd.com/read/28091449/crouzon-syndrome-with-multiple-supernumerary-teeth
#1
G S Torun, A Akbulut
Crouzon syndrome (CS) is an autosomal dominant disorder characterized by craniofacial deformities caused by the early closure of cranial sutures. It is diagnosed by the presence of a flat sphenoid bone, protrusion of eyeballs (exophthalmos), and midfacial hypoplasia. Although hypodontia is usually present in cases with CS, supernumerary teeth are rarely seen. A 16-year-old male patient with CS was referred to our clinic. He had a high forehead, beaked nose, hypertelorism, palpebral ptosis, and asymmetrical orbits...
February 2017: Nigerian Journal of Clinical Practice
https://www.readbyqxmd.com/read/28087285/apert-syndrome-a-consensus-on-the-management-of-apert-hands
#2
David A Pettitt, Zeeshaan Arshad, Anuj Mishra, Paul McArthur
INTRODUCTION: Apert Syndrome is a congenital condition characterised by primary craniosynostosis, midfacial malformations and complex symmetrical malformations of the hands and feet. The hands demonstrate one of the most complex collections of congenital upper limb deformities, posing a significant challenge for the paediatric hand surgeon. This study examines the extant literature and current practice of the four UK specialist craniofacial units regarding the management of Apert hands in order to provide a basis for guideline development...
December 10, 2016: Journal of Cranio-maxillo-facial Surgery
https://www.readbyqxmd.com/read/28061881/moebius-sequence-a-multidisciplinary-clinical-approach
#3
Line Kjeldgaard Pedersen, Rikke Damkjær Maimburg, Jens Michael Hertz, Hans Gjørup, Thomas Klit Pedersen, Bjarne Møller-Madsen, John Rosendahl Østergaard
BACKGROUND: Moebius Sequence (MS) is a rare disorder defined by bilateral congenital paralysis of the abducens and facial nerves in combination with various odontological, craniofacial, ophthalmological and orthopaedic conditions. The aetiology is still unknown; but both genetic (de novo mutations) and vascular events in utero are reported. The purpose of present study was through a multidisciplinary clinical approach to examine children diagnosed with Moebius-like symptoms. Ten children underwent odontological, ophthalmological, obstetric, paediatric, orthopaedic, genetic, radiological and photographical evaluation...
January 6, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28032345/zygomatic-bone-shape-in-intentional-cranial-deformations-a-model-for-the-study-of-the-interactions-between-skull-growth-and-facial-morphology
#4
S Ketoff, F Girinon, S Schlager, M Friess, T Schouman, P Rouch, R H Khonsari
Intentional cranial deformations (ICD) were obtained by exerting external mechanical constraints on the skull vault during the first years of life to permanently modify head shape. The repercussions of ICD on the face are not well described in the midfacial region. Here we assessed the shape of the zygomatic bone in different types of ICDs. We considered 14 non-deformed skulls, 19 skulls with antero-posterior deformation, nine skulls with circumferential deformation and seven skulls with Toulouse deformation...
December 29, 2016: Journal of Anatomy
https://www.readbyqxmd.com/read/28027171/measurement-of-distraction-force-in-cleft-lip-and-palate-patients-during-le-fort-i-maxillary-advancement-with-rigid-external-distraction
#5
Hiromi Sawada, Takuya Ogawa, Keiichi Kataoka, Yoshiyuki Baba, Keiji Moriyama
OBJECTIVE: Maxillary distraction osteogenesis (DO) is a mainstream surgical technique for patients who have severe maxillary hypoplasia associated with craniofacial syndromes and cleft-related deformities. However, limited information about the biomechanical aspects of maxillary DO is available limiting broad utilization and improvements to the procedure. The objective of this study was to analyze force levels during the active distraction process and to investigate the relationship between distraction force and maxillary movement during Le Fort I maxillary DO using a rigid external distraction (RED) system...
December 23, 2016: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28018436/chromosome-11q13-deletion-syndrome
#6
Yu-Seon Kim, Gun-Ha Kim, Jung Hye Byeon, So-Hee Eun, Baik-Lin Eun
Chromosome 11q13 deletion syndrome has been previously reported as either otodental syndrome or oculo-oto-dental syndrome. The otodental syndrome is characterized by dental abnormalities and high-frequency sensorineural hearing loss, and by ocular coloboma in some cases. The underlying genetic defect causing otodental syndrome is a hemizygous microdeletion involving the FGF3 gene on chromosome 11q13.3. Recently, a new form of severe deafness, microtia (small ear) and small teeth, without the appearance of eye abnormalities, was also reported...
November 2016: Korean Journal of Pediatrics
https://www.readbyqxmd.com/read/28005795/orbitocranial-fibrous-dysplasia-outcome-of-radical-resection-and-immediate-reconstruction-with-titanium-mesh-and-pericranial-flap
#7
Khalid Nasser Fadle, Ahmed Gaber Hassanein, Abdin K Kasim
INTRODUCTION: Fibrous dysplasia (FD) is a non-neoplastic developmental fibro-osseous disease. It represents 2.5% of all bone tumors and 5% to 7% of the benign bone tumors. Orbitocranial region is involved in about 20% of the patients. The main presentations are craniofacial deformity and headache. Loss of vision is the most devastating result of this disease. There is no medical treatment to cure or prevent FD. Radiation therapy is contraindicated. Surgery for the orbitocranial FD is often challenging because of the proximity of neurovascular and ocular structures...
November 2016: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28005771/ocular-reconstruction-using-bone-anchored-implants-in-irradiated-facial-deformities-after-tumor-extirpation
#8
Mansher Singh, Raquel Minasian, Matthew Jackson, E J Caterson
BACKGROUND: Surgical resection of ocular malignancies can result in complex craniofacial defects that can be difficult to reconstruct with conventional reconstruction techniques. Craniofacial prosthesis supported by bone-anchored implants has evolved as a reliable alternative in such scenarios. METHODS: The authors describe a patient who underwent extensive facial resection secondary to squamous cell carcinoma resulting in significant facial deformities. A bone-anchored osseointegrated implant was used to perform facial reconstruction...
November 2016: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28005770/a-new-surgical-approach-for-tessier-no-4-facial-cleft-reconstruction-lip-rescue-flap
#9
Ugur Horoz, Tomoaki Kuroki, Nabuhiro Sato, Yasuyoshi Tosa, Hulda Rifat Ozakpinar, Ali Teoman Tellioglu, Shinya Yoshimoto
Craniofacial clefts are rare, severe challenges for surgeons about which there is limited literature. Tessier Number 4 (No. 4) clefts are one of the most complex craniofacial anomalies and present difficulties in surgical treatment. The most-common deformities associated with Tessier No. 4 clefts are displacements of the lower eyelids, medial canthus, and ala and decreased distance between the lower eyelids and lips. In surgery to correct these deformities, the greatest challenges are the design and the placement of the landmarks and incisions...
November 2016: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28005737/nasoalveolar-molding-therapy-for-the-treatment-of-unilateral-cleft-lip-and-palate-improves-nasal-symmetry-and-maxillary-alveolar-dimensions
#10
María Gloria Ruíz-Escolano, Adoración Martínez-Plaza, Ricardo Fernández-Valadés, Rosario Cortés-Sánchez, María Angeles Muñoz-Miguelsanz, Eugenio Velasco-Ortega, María Bélen Perez-Ureña, Kamel Matar-Satuf, Antonio José España-López
OBJECTIVE: The aim of this study is to assess the esthetic and morphologic outcomes before surgery using nasoalveolar molding (NAM) therapy in children with unilateral cleft lip and palate. DESIGN: A prospective analysis was performed. SETTING: The study was carried out in the Congenital Malformations Craniofacial and Cleft Lip and Palate Unit, Hospital Virgen de las Nieves, Andalusian Health Service, Granada (Spain). PATIENTS: Twenty consecutively enrolled infants ranging in age from 7 to 30 days with nonsyndromic unilateral cleft lip and palate treated from 2008 to 2012...
November 2016: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28005729/assessment-of-deformational-plagiocephaly-severity-and-neonatal-developmental-delay
#11
Stefani C Fontana, Debora Daniels, Thomas Greaves, Niaman Nazir, Jeff Searl, Brian T Andrews
Deformational plagiocephaly (DP) in infants has been associated with developmental delay that can last until adolescence. Despite this association and a 5-fold increase in incidence of DP over the past 2 decades, there are currently no guidelines regarding screening for developmental delay or identification of which infants with DP are at the greatest risk of delay. A prospective, nonrandomized study was performed. Infants diagnosed with DP who had no prior intervention were eligible for enrollment. Cranial deformity was measured by cross-cranial measurements using calipers, and developmental delay was measured using the Bayley Scales of Infant and Toddler Development, Third Edition (Bayley-III)...
November 2016: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/27994432/presurgical-nasoalveolar-molding-a-boon-to-facilitate-the-surgical-repair-in-infants-with-cleft-lip-and-palate
#12
Prabhakar Ramasetty Attiguppe, Y M Karuna, Chandrashekar Yavagal, Saraswathi V Naik, B M Deepak, Rekhamani Maganti, Chaithanya G Krishna
Cleft lip and palate (CLP) is the most common congenital craniofacial anomaly. Rehabilitation of CLP generally requires a team approach. Alveolar and nasal reconstruction for these patients is a challenge for the reconstructive surgeon. Various procedures have been attempted to reduce the cleft gap, so as to obtain esthetic results postsurgically. The presurgical nasoalveolar molding (PNAM) technique, developed by Grayson, is a new approach to presurgical infant orthopedics. PNAM reduces the severity of the initial cleft alveolar and nasal deformity...
October 2016: Contemporary Clinical Dentistry
https://www.readbyqxmd.com/read/27984602/-analysis-of-clinical-phenotypes-and-genetic-variations-in-a-chinese-family-affected-with-craniofacial-and-skeletal-deformities
#13
Huihui Sun, Naijun Wan
OBJECTIVE: To identify pathogenic mutation in a pedigree affected with craniofacial and skeletal abnormalities featuring an autosomal dominant inheritance. METHODS: Clinical data and peripheral venous blood samples of the pedigree were collected. A total of 326 exons of skeletal disease-related genes were screened using Roche NimbleGen probes, and the results were confirmed by Sanger sequencing. Suspected variants were analyzed by bioinformatic software. RESULTS: A novel heterozygous mutation c...
December 10, 2016: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/27929136/an-integrated-genomic-approach-for-the-study-of-mandibular-prognathism-in-the-european-seabass-dicentrarchus-labrax
#14
Massimiliano Babbucci, Serena Ferraresso, Marianna Pauletto, Rafaella Franch, Chiara Papetti, Tomaso Patarnello, Paolo Carnier, Luca Bargelloni
Skeletal anomalies in farmed fish are a relevant issue affecting animal welfare and health and causing significant economic losses. Here, a high-density genetic map of European seabass for QTL mapping of jaw deformity was constructed and a genome-wide association study (GWAS) was carried out on a total of 298 juveniles, 148 of which belonged to four full-sib families. Out of 298 fish, 107 were affected by mandibular prognathism (MP). Three significant QTLs and two candidate SNPs associated with MP were identified...
December 8, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27928243/surgical-repair-of-a-median-cleft-of-the-upper-lip-via-a-pfeifer-incision-a-case-report
#15
Rajeev Pandey, Rajat Gupta, Nitin Bhagat, Aviral Verma
Median cleft is the midline cleft of the lip. It develops due to incomplete or failed fusion of the median nasal prominence. It can present with minimal deformities such as involvement of the vermilion border, or complex clefting of the midline structures and brain. Median clefts are broadly classified as true and false clefts. This case report describes a rare case of median cleft of the upper lip involving the white roll, which was not associated with any other deformities. Treatment included reconstruction of the philtrum and the cupid's bow while maintaining vermilion fullness and continuity, and minimizing scar formation...
March 2016: Journal of Dentistry of Tehran University of Medical Sciences
https://www.readbyqxmd.com/read/27924730/congenital-malformations-attributed-to-prenatal-exposure-to-cyclophosphamide
#16
Padmanabhan Rengasamy
Cyclophosphamide (CPA) remains one of the most widely prescribed anticancer drugs. It is also used in the treatment of rheumatoid arthritis, childhood nephrotic syndrome and systemic lupus erythematosus. It is a potent immunosuppressive agent. It is commonly used in blood and bone marrow transplantation. With the growing trend among women postponing childbearing, the number of women who are diagnosed with breast cancer is also increasing thus escalating the chances of exposure of the unborn child to antineoplastic drugs...
December 6, 2016: Anti-cancer Agents in Medicinal Chemistry
https://www.readbyqxmd.com/read/27922967/cervical-spine-deformity-in-long-standing-untreated-congenital-muscular-torticollis
#17
Mohammed Ahmed Hussein, In Sik Yun, Hanna Park, Yong Oock Kim
BACKGROUND: Congenital muscular torticollis (CMT) is a benign condition. With early diagnosis and appropriate management, it can be cured completely, leaving no residual deformity. However, long-standing, untreated CMT can lead to permanent craniofacial deformities and asymmetry. METHODS: Four adult patients presented to the author with long-standing, untreated CMT. Initial clinical assessment demonstrated tightness of the sternocleidomastoid muscle on the affected side...
December 5, 2016: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/27882130/the-use-of-expanded-polytetrafluoroethylene-in-depressed-deformities-of-the-face
#18
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/27870351/review-of-in-vivo-bone-strain-studies-and-finite-element-models-of-the-zygomatic-complex-in-humans-and-nonhuman-primates-implications-for-clinical-research-and-practice
#19
Felippe Bevilacqua Prado, Alexandre Rodrigues Freire, Ana Cláudia Rossi, Justin A Ledogar, Amanda L Smith, Paul C Dechow, David S Strait, Tilman Voigt, Callum F Ross
The craniofacial skeleton is often described in the clinical literature as being comprised of vertical bony pillars, which transmit forces from the toothrow to the neurocranium as axial compressive stresses, reinforced transversely by buttresses. Here, we review the literature on bony microarchitecture, in vivo bone strain, and finite-element modeling of the facial skeleton of humans and nonhuman primates to address questions regarding the structural and functional existence of facial pillars and buttresses...
December 2016: Anatomical Record: Advances in Integrative Anatomy and Evolutionary Biology
https://www.readbyqxmd.com/read/27796401/geometric-morphometrics-of-different-malocclusions-in-lateral-skull-radiographs
#20
Josef Freudenthaler, Aleš Čelar, Christopher Ritt, Philipp Mitteröcker
BACKGROUND: To evaluate the role of craniofacial shape in malocclusion by application of geometric morphometrics to a set of two-dimensional landmarks and semilandmarks obtained from lateral skull radiographs. METHODS: Cephalometric radiograph tracings of 88 untreated Caucasians (age range 7-39 years) were assigned to four groups according to their occlusion: neutrocclusion, distocclusion, mesiocclusion, and anterior open bite. The geometric morphometric shape analysis incorporated 66 landmarks and semilandmarks, which underwent generalized Procrustes analysis, between-groups principal component analysis, thin-plate spline deformation grid visualization, permutation tests, and receiver operating characteristic curves...
January 2017: Journal of Orofacial Orthopedics, Fortschritte der Kieferorthopädie
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