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Craniofacial Morphology in Patients With Opitz G/BBB Syndrome
No full textObjective: To compare the cephalometric characteristics of patients with and without Opitz G/BBB syndrome type I. Design: Cross-sectional, case–control study. Setting: Tertiary cleft center in Brazil. Participants: Eighteen individuals with Opitz G/BBB syndrome with complete bilateral cleft lip and palate (BCLP), compared to 18 individuals with nonsyndromic complete cleft lip and palate and 18 individuals without malformations, matched for gender and age. Interventions: Pretreatment lateral cephalograms of all patients were manually traced and digitized for achievement of linear and angular measurements. Main Outcome Measures: Analysis of variance or Kruskal-Wallis followed by Tukey tests were used for intergroup comparisons at a significance level of P <.05. Results: Individuals with Opitz G/BBB syndrome exhibited alterations in SNGn, P-Co, and N’-Pr/Po-Or that were not attributable to BCLP. Co-Go, Sella-Nasion-Supramentale, ANB (maxillo-mandibular relationship), and anterior nasal spine-posterior nasal spine (ANS-PNS)/U1A-U1T were significantly different in both G/BBB and BCLP groups compared to control, but not different between G/BBB and BCLP groups. Anterior nasal spine-posterior nasal spine/Go-Gn, ANS-PNS, V-Upper pharyngeal wall, and U-lower pharyngeal wall were different in nonsyndromic BLCP compared to nonsyndromic controls and Opitz G/BBB group. Conclusion: Patients with Opitz G/BBB syndrome exhibited some unique cephalometric alterations compared to patients with nonsyndromic complete BCLP and controls
Multidisciplinary management of Opitz G BBB syndrome
No full textOpitz G BBB syndrome is a rare condition characterized by the 3 major anomalies of hypertelorism, cleft lip and palate, and hypospadias, although there may be other associated anomalies. The underlying genetic causes are complex and consist of both X-linked recessive and autosomal dominant forms of the disorder. Previously, there have been publications on the underlying genetics and case reports, but there have been few reports regarding the long-term outcome. The aim in this study was to review the range of clinical presentation and evaluate outcomes of the multidisciplinary management of a cohort of patients with Opitz G BBB syndrome. In a 25-year period, 7 patients with Opitz G BBB syndrome were managed by the Australian Craniofacial Unit (ACFU), 5 male and 2 female. Most of the patients are now reaching skeletal maturity. Each one presented with a range of severity in the triad of hypertelorism, cleft lip and palate, and hypospadias anomalies. The males all exhibited the triad of anomalies, while the females both had hypertelorism, only 1 had isolated cleft palate, and neither had any genitourinary anomalies. Each patient underwent multidisciplinary assessment to make a treatment plan for staged management of different anomalies. Plan for surgical corrections of facial anomalies were performed according to the unit's protocol management of both hypertelorism and cleft lip and palate, but the presence of these coexisting anomalies required adjustment of the standard protocol of management of cleft lip and palate. In conclusion, we recommend that patients with Opitz G BBB syndrome require careful evaluation, and management of the anomalies should be in a coordinated manner by a multidisciplinary team
Neonatal teeth in X-linked Opitz (G/BBB) syndrome
No full textTwo male siblings are described with a clinical and molecular diagnosis of X-linked Opitz (G/BBB) syndrome and the previously unreported feature of neonatal mandibular incisors. \ua9 2006 Lippincott Williams & Wilkins, Inc
Duplication of the MID1 first exon in a patient with Opitz G/BBB syndrome
No full textOpitz G/BBB syndrome is a malformation syndrome of the ventral midline mainly characterized by hypertelorism, swallowing difficulties, hypospadias and developmental delay. SSCP analysis and genomic sequencing of the MID1 open reading frame have identified mutations in 80% of the families with X-linked inheritance. However, in many patients the underlying genetic defect remains undetected by these techniques. Using RNA diagnostics we have now identified a duplication of the MID1 first exon in a patient with X-linked Opitz G/BBB syndrome. This duplication introduces a premature termination codon. In addition, we could significantly lower the threshold for mutation detection on the DNA level by combining SSCP analysis with DHPLC technology
Opitz G/BBB Syndrome in Xp22: Mutations in the MID1 Gene Cluster in the Carboxy-Terminal Domain
No full textSummaryThe MID1 gene in Xp22 codes for a novel member of proteins containing a RING finger, B-box, coiled-coil and a conserved C-terminal domain. Initially, three mutations in the C-terminal region were found in patients with Opitz G/BBB syndrome, a defect of midline development. Here we have determined the complete gene structure of the MID1 gene and have analyzed all nine exons for mutations in a set of 40 unrelated Opitz G/BBB patients. We now report six additional mutations all clustered in the carboxy-terminal domain of the MID1 protein. These data suggest that this conserved domain of the B-box proteins may play a fundamental role in the pathogenesis of Opitz syndrome and in morphogenetic events at the midline during blastogenesis
Going Beyond Counting First Authors in Author Co-citation Analysis
Get PDFThe present study examines one of the fundamental aspects of author co-citation analysis (ACA) - the way co-citation
counts are defined. Co-citation counting provides the data on which all subsequent statistical analyses and mappings
are based, and we compare ACA results based on two different types of co-citation counting - the traditional type that
only counts the first one among a cited work's authors on the one hand and a non-traditional type that takes into
account the first 5 authors of a cited work on the other hand. Results indicate that the picture produced through this non-traditional author co-citation counting contains more coherent author groups and is therefore considerably clearer. However, this picture represents fewer specialties in the research field being studied than that produced through the traditional first-author co-citation counting when the same number of top-ranked authors is selected and analyzed. Reasons for these effects are discussed
Image analysis of the central nervous system and the phenotype of Brazilian individuals with Opitz G/BBB syndrome
No full textO presente estudo é focalizado na avaliação dos achados do sistema nervoso central através de imagens obtidas através de ressonância nuclear magnética (RNM) em pacientes com a Síndrome de Opitz G/BBB. A síndrome de Opitz G/BBB (OMIM; 145410; 300000) é uma síndrome de anomalias congênitas múltiplas que comprometem a linha média, clinica e geneticamente heterogênea, com uma forma ligada ao cromossomo X mapeada em Xp22.3 e uma outra forma supostamente autossômica dominante mapeada em 22q11 cujo gene nunca foi identificado; no entanto, ambas são reconhecidas como uma condição única. Esta síndrome de anomalias da linha média se caracteriza principalmente por hipertelorismo, bico de viúva, ponte nasal larga, hipospádia, fissura de lábio/palato, e anomalias laringo-traqueo-esofágicas. Neste estudo avaliamos 19 pacientes do sexo masculino, brasileiros, sem etnia específica, com idades variando entre 5 e 38 anos, diagnosticados previamente como portadores de síndrome de Opitz G/BBB, selecionados dos arquivos da Seção de Genética Clinica, Divisão de Sindromologia, HRAC-USP Bauru. Destes pacientes, 6 tinham avaliação prévia por estudos de genética molecular gentilmente realizados pelas Dras. Chiara Migliore (Institute for Maternal and Child Health - IRCCS \"Burlo Garofolo\", Trieste, Italy) e Germana Meroni (CBM - Cluster in Biomedicine, AREA Science Park, Trieste, Italy). Os estudos por imagem através de RNM foram realizados em todos os pacientes. Atenção especial foi dedicada a 3 pacientes que mostravam fenótipos clínicos distintos dos demais dentro do espectro da síndrome de Opitz G/BBB: dois pacientes apresentavam ptose, pescoço alado, e anomalias da cintura escapular, enquanto que o terceiro apresentava retardo mental grave e microcefalia associado a graves alterações encefálicas na avaliação por imagem, tais como atrofia cortical generalizada e grande anomalia de Dandy-Walker. Os principais achados por imagem da amostra total são representados por cisterna magna ampla (15 indivíduos = 78,95%), dilatação do 4º ventrículo (14 = 73,68%), hipoplasia do vermis cerebelar (8 = 42,10%), hemisférios cerebelares anômalos e cavum septum vergae (3 = 15,79% cada condição); atrofia de córtex cerebral, alargamento do III ventrículo, aumento da cisterna pré-pontina, hipoplasia de corpo caloso e persistência de septo pelúcido contam, cada um, com dois pacientes acometidos (10,53%). Aparentemente não havia correlação entre o fenótipo clínico e os achados por imagem, existindo grande variabilidade de paciente para paciente, que se estendiam desde discretas alterações da linha média até grave malformação de Dandy-Walker. As alterações comportamentais e cognitivas usualmente descritas na literatura como achados principais em pacientes com hipoplasia do vermis cerebelar e/ou hipoplasia cerebelar não foram reconhecidas como achados marcantes nos pacientes do presente trabalho. A alta frequência de anomalias cerebelares em pacientes com a síndrome de Opitz G/BBB nos leva a recomendação para a reformulação do aconselhamento genético, abordagem e manejo destes pacientes.The present survey focused on the evaluation of the central nervous system images findings in patients with the Opitz G/BBB syndrome obtained through magnetic nuclear resonance imaging (MRI). The Opitz G/BBB syndrome (OMIM; 145410; 300000) is a midline congenital malformation syndrome, clinical and genetically heterogeneous with an X-linked form mapped on Xp22.3 and a not well defined autosomal dominant form purportedly on 22q11, however they are recognized as one entity. This multiple congenital midline malformation syndrome is mainly characterized by hypertelorism, widows peak, broad nasal bridge, hypospadias, cleft lip/palate, and laryngo-tracheo-esophageal abnormalities. In the present study we have evaluated nineteen male patients of Brazilian extraction, with no preferential ethnic background, with age span ranging from 5 to 38 years old and previously diagnosed with the OS were selected from the files of the Section of Clinical Genetics, Division of Syndromology, HRAC-USP Bauru. From these patients, six had previous evaluation through molecular analysis graciously performed by Chiara Migliore (Institute for Maternal and Child Health - IRCCS \"Burlo Garofolo\", Trieste, Italy) and Germana Meroni (CBM - Cluster in Biomedicine, AREA Science Park, Trieste, Italy). Imaging studies through MRI were performed in all patients. Special attention was given to 3 out the 19 patients who showed unique phenotypes within the OS spectrum: 2 of them presented ptosis, pterigium colli, and abnormal scapular girdle as deviant signs and they presented mild/moderate cerebellar anomalies, and the 3rd presented severe mental retardation and microcephaly associated to generalized severe imaging findings mainly represented by generalized cortical atrophy and huge Dandy-Walker anomaly. Main MRI findings of the whole sample included wide cisterna magna (15 = 78,95%), enlarged 4th ventricle (14 = 73,68%), cerebellar vermis hypoplasia (8 = 42,10%); abnormal cerebellar hemispheres and cavum septum vergae (3 = 15,79% each one); cerebral cortical atrophy, enlarged III ventricle, enlarged prepontine cisterna, calosal hypoplasia and cavum septum pellucidum counts, each one, two patients (10,53%). Apparently there is no correlation between the clinical phenotype and the imaging findings, and there is a wide variability from patients to patients, ranging from mild midline anomalies to severe Dandy Walker anomaly. Behavioral and severe cognitive deficits usually reported in the pertinent literature as main findings associated to cerebellar vermis hypoplasia and/or cerebellar hypoplasia were not recognized as a remarkable finding in the present series. The high frequency of cerebellar anomalies in the OS patients led us to recommend a reformulation in the genetic counseling approach to these patients
A MID1 mutation associated with reduced penetrance of X-linked Opitz G/BBB syndrome.
No full textContains fulltext :
89543.pdf (Publisher’s version ) (Open Access)The X-linked Opitz G/BBB syndrome (OS) is a congenital malformation disorder characterized by hypertelorism, swallowing difficulties, hypospadias, and additional midline malformations. Loss of function mutations in the MID1 gene at Xp22.3 are responsible for the X-linked form of OS. Various mutations are found all over the gene but without a clear genotype-phenotype correlation. We describe additional family studies of a previously reported boy with a relatively mild form of OS, caused by the unique p.Lys370Glu (c.1108A>G) mutation in MID1. The same mutation was found in his clinically affected brother but also in the healthy maternal uncle. To our knowledge, this is the first report of a MID1 missense mutation causing non-penetrance in a male.01 oktober 201
Variations on the Author
Get PDF“Variations on the Author” discusses two of Eduardo Coutinho’s recent films (Um Dia na Vida, from 2010, and Últimas Conversas, posthumously released in 2015) and their contribution to the general question of documentary authorship. The director’s filmography is characterized by a consistent yet self-effacing form of authorial self-inscription: Coutinho often features as an interviewer that rather than express opinions propels discourses; an interviewer that is good at listening. This mode of self-inscription characterizes him as an author who is not expressive but who is nonetheless markedly present on the screen. In Um Dia na Vida, however, Coutinho is completely absent form the image, while Últimas Conversas, on the contrary, includes a confessional prologue that moves the director from the margins to the center of his films. This article examines the ways in which these works stand out in the filmography of a director who offers new insights into the notion of cinematic authorship
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