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Limb anomalies and syndromes of the craniofacial complex I.Morphogenesis and dysmorphogenesis of the limbs.
P. N. Synodinos,M. I. Papagrigorakis
Hellenic Orthodontic Review , 2002,
Abstract: It has been observed that occurrence of craniofacial complex anomalies is combined with manifestation of limb anomalies in many syndromes. A common denominator explaining the simultaneous presence of these anomalies may be revealed through the evolution of molecular biology and genetics. It is well known that, often, during embryogenesis, the same genes are expressed for the development of various anatomic structures, a fact recognized as economy of Nature. Analysis of the fundamental mechanisms involved in limb development and identification of corresponding craniofacial complex morphogenetic mechanisms constitute the first steps towards understanding the etiopathogenesis of anomalies concerning both limbs and craniofacial complex in many syndromes. The ultimate goal is prevention and effective management of such conditions. The aim of part I of this study is to describe, on the basis of contemporary literature, the mechanisms of limb development emphasizing especially their possible relationship with corresponding morphogenetic mechanisms of the craniofacial complex. Part II will refer to limb manifestations of certain characteristic syndromes of the craniofacial complex.
Limb anomalies and craniofacial syndromes II. Gene regulation of morphogenetic and dysmorphogenetic craniofacial mechanisms.
F. N. Synodinos,M. J. Papagrigorakis
Hellenic Orthodontic Review , 2004,
Abstract: It has been observed that the occurrence of craniofacial anomalies in many syndromes is accompanied by the manifestation of limb anomalies. A common denominator explaining the simultaneous presence of these anomalies may be revealed through the evolution of molecular biology and genetics. It is well known that, often, during embryogenesis, the same genes are expressed for the development of various anatomic structures, a fact recognized as economy of Nature. Analysis of the fundamental mechanisms involved in limb development and identification of corresponding craniofacial morphogenetic mechanisms constitute the first steps towards understanding the etiopathogenesis of anomalies concerning both limbs and craniofacial complex in many syndromes. The ultimate goal is the prevention and the effective management of such conditions. The aim of part II of this study is to describe, on the basis of contemporary literature, the craniofacial morphogenetic mechanisms emphasizing their possible relationship with respective mechanisms in limb development.
Craniofacial computed tomography imaging: a review  [PDF]
Z.A. Rajion
Archives of Orofacial Sciences , 2006,
Abstract: Imaging is a keystone for the understanding and delivery of craniofacial health care and recent developments have led to many diverse technologies and approaches. This paper reviews new developments in three-dimensional imaging, as well as three-dimensional facial image acquisition. Visualization and convergence of the data from these technologies are also described for construction of patient-specific models.
CT interpretation of craniofacial anomalies: a comparative analysis by undergraduate dental students
Gaia, Bruno Felipe;Perella, Andréia;Cara, Ana Cláudia Ballet de;Antunes, José Leopoldo Ferreira;Cavalcanti, Marcelo Gusm?o Paraiso;
Brazilian Oral Research , 2005, DOI: 10.1590/S1806-83242005000100011
Abstract: the aim of this study was to evaluate the accuracy and reproducibility of computed tomography (ct) image interpretation made in axial slices (2d-ct) and 3d reconstructed images (3d-ct) of patients with craniofacial anomalies. the analyses were made by undergraduate dental students, and compared with the diagnoses considered upon surgical intervention. computed tomography of 43 patients were analyzed independently by three calibrated examiners (undergraduate students) with, respectively, one, two, and three semesters of experience in craniofacial ct training and interpretation. the analysis of 2d-ct and 3d-ct images were performed at distinct times using an independent workstation associated with a specific computer graphics software for volumetric images. the analysis of inter-examiner agreement and of the agreement between observers and the gold standard was performed using the kappa test. the accuracy evaluation presented a progressively higher value for examiners with progressively broader experience in 2d-ct and 3d-ct image interpretation. 3d-ct analyses allowed a higher inter-examiner agreement (1 - 0.896) than 2d-ct analyses (1 - 0.614). 3d-ct was considered more precise and accurate than 2d-ct for all students' evaluations. the reproducibility and accuracy varied according to the experience in ct interpretation, and the most experienced student achieved results closer to the gold standard.
Dental and Craniofacial Anomalies Associated with Axenfeld-Rieger Syndrome with PITX2 Mutation
Simone Dressler,Philipp Meyer-Marcotty,Nicole Weisschuh,Anahita Jablonski-Momeni,Klaus Pieper,Gwendolyn Gramer,Eugen Gramer
Case Reports in Medicine , 2010, DOI: 10.1155/2010/621984
Abstract: Axenfeld-Rieger syndrome (ARS) (OMIM Nr.: 180500) is a rare autosomal dominant disorder (1  :  200000) with genetic and morphologic variability. Glaucoma is associated in 50% of the patients. Craniofacial and dental anomalies are frequently reported with ARS. The present study was designed as a multidisciplinary analysis of orthodontic, ophthalmologic, and genotypical features. A three-generation pedigree was ascertained through a family with ARS. Clinically, radiographic and genetic analyses were performed. Despite an identical genotype in all patients, the phenotype varies in expressivity of craniofacial and dental morphology. Screening for PITX2 and FOXC1 mutations by direct DNA-sequencing revealed a P64L missense mutation in PITX2 in all family members, supporting earlier reports that PITX2 is an essential factor in morphogenesis of teeth and craniofacial skeleton. Despite the fact that the family members had identical mutations, morphologic differences were evident. The concomitant occurrence of rare dental and craniofacial anomalies may be early diagnostic indications of ARS. Early detection of ARS and elevated intraocular pressure (IOP) helps to prevent visual field loss.
Rehabilitative treatment of cleft lip and palate: experience of the Hospital for Rehabilitation of Craniofacial Anomalies/USP (HRAC/USP) - Part 1: overall aspects
Freitas, José Alberto de Souza;Neves, Lucimara Teixeira das;Almeida, Ana Lúcia Pompéia Fraga de;Garib, Daniela Gamba;Trindade-Suedam, Ivy Kiemle;Yaedú, Renato Yassutaka Faria;Lauris, Rita de Cássia Moura Carvalho;Soares, Simone;Oliveira, Thais Marchini;Pinto, Jo?o Henrique Nogueira;
Journal of Applied Oral Science , 2012, DOI: 10.1590/S1678-77572012000100003
Abstract: cleft lip and palate is the most common among craniofacial malformations and causes several esthetic and functional implications that require rehabilitation. this paper aims to generally describe the several aspects related to this complex pathology and the treatment protocol used by the hospital for rehabilitation of craniofacial anomalies, university of s?o paulo (hrac-usp) along 40 years of experience in the treatment of individuals with cleft lip and palate.
Mesotron Decays and the Role of Anomalies
Bardeen, William A.
High Energy Physics - Phenomenology , 2007, DOI: 10.1143/PTPS.167.44
Abstract: Puzzles associated with Yukawa's mesotron theory of nuclear interactions led to the discovery of "anomalies" in quantum field theory. I will discuss some of the remarkable consequences of these anomalies in the physics of elementary particles.
Dynamical anomalies and the role of initial conditions in the HMF model  [PDF]
Alessandro Pluchino,Vito Latora,Andrea Rapisarda
Physics , 2004, DOI: 10.1016/j.physa.2004.02.025
Abstract: We discuss the role of the initial conditions for the dynamical anomalies observed in the quasi-stationary states of the Hamiltonian Mean Field (HMF) model.
Rehabilitative treatment of cleft lip and palate: experience of the Hospital for Rehabilitation of Craniofacial Anomalies - USP (HRAC-USP) - Part 2: Pediatric Dentistry and Orthodontics
Freitas, José Alberto de Souza;Garib, Daniela Gamba;Oliveira, Marchini;Lauris, Rita de Cássia Moura Carvalho;Almeida, Ana Lúcia Pompéia Fraga de;Neves, Lucimara Teixeira;Trindade-Suedam, Ivy Kiemle;Yaedú, Renato Yassutaka Faria;Soares, Simone;Pinto, Jo?o Henrique Nogueira;
Journal of Applied Oral Science , 2012, DOI: 10.1590/S1678-77572012000200024
Abstract: the aim of this article is to present the pediatric dentistry and orthodontic treatment protocol of rehabilitation of cleft lip and palate patients performed at the hospital for rehabilitation of craniofacial anomalies - university of s?o paulo (hrac-usp). pediatric dentistry provides oral health information and should be able to follow the child with cleft lip and palate since the first months of life until establishment of the mixed dentition, craniofacial growth and dentition development. orthodontic intervention starts in the mixed dentition, at 8-9 years of age, for preparing the maxillary arch for secondary bone graft procedure (sbgp). at this stage, rapid maxillary expansion is performed and a fixed palatal retainer is delivered before sbgp. when the permanent dentition is completed, comprehensive orthodontic treatment is initiated aiming tooth alignment and space closure. maxillary permanent canines are commonly moved mesially in order to substitute absent maxillary lateral incisors. patients with complete cleft lip and palate and poor midface growth will require orthognatic surgery for reaching adequate anteroposterior interarch relationship and good facial esthetics.
Refractory craniofacial pain: is there a role of periodontal disease as a comorbidity?
Fabri, Gisele Maria Campos;Siqueira, Silvia R.D.T.;Simione, Caio;Nasri, Cibele;Teixeira, Manoel Jacobsen;Siqueira, José Tadeu Tesseroli;
Arquivos de Neuro-Psiquiatria , 2009, DOI: 10.1590/S0004-282X2009000300018
Abstract: objetive: to evaluate the influence of the periodontal disease (pd), a chronic infection, in patients with chronic craniofacial pain complaints. method: twenty patients with chronic craniofacial pain and pd (cfp group) and 20 patients with pd (pd group) were assessed before and after periodontal treatment (baseline, 30 and 180 days after treatment). the paramenters evaluated were: plaque index, bleeding index, clinical probe insertion, visual analogic scale (vas) for pain intensity and numerical rating scale (nrs) and verbal rating scale (vrs) for the "chief complaint". results: after 180 days pd was controlled in both groups (p<0.001); the vas decreased in cfp group (p<0.001); "chief complaint" improved (p=0.005 and p=0.027, respectively in cfp and pd group). vrs showed improvement between the groups in 30 (p=0.004) and 180 days (p=0.001). conclusion: these results suggest a possible influence of periodontal disease, as a comorbidity, in refractory craniofacial pain patients and in their pain levels.
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