Results 71 to 80 of about 24,851 (250)

Multidisciplinary care of craniosynostosis

Journal of Multidisciplinary Healthcare, 2017
Edward P Buchanan,1 Yunfeng Xue,1 Amy S Xue,1 Asaf Olshinka,1 Sandi Lam2 1Michael E. DeBakey Department of Surgery, Division of Plastic Surgery, 2Michael E. DeBakey Department of Surgery, Division of Neurosurgery, Baylor College of Medicine, Houston, TX,
Buchanan EP, Xue Y, Xue AS, Olshinka A, Lam S   +4 more
doaj  

Chitayat syndrome: hyperphalangism, characteristic facies, hallux valgus and bronchomalacia results from a recurrent c.266A>G p.(Tyr89Cys) variant in the ERF gene. [PDF]

, 2016
BACKGROUND: In 1993, Chitayat et al., reported a newborn with hyperphalangism, facial anomalies, and bronchomalacia. We identified three additional families with similar findings.
Balasubramanian, M., Bejerano, G., Bernstein, J.A., Bowen, J., Calhoun, A.R., Chitayat, D., DDD Study, Guturu, H., Johnson, D.S., Lester, T., Levesque, S., Lord, H., Sillon, G., Sureka, D.L., Thuriot, F., Viskochil, D.H., Wenger, A.M.   +16 more
core   +1 more source

Pterygoid bone malformation and its limitations on the effectiveness of brachycephalic airway corrective surgery in brachycephalic dogs

Journal of Small Animal Practice, EarlyView.
Objectives This study aimed to examine the association between pterygoid bone medialisation and treatment outcomes after upper airway surgery in three brachycephalic breeds. Materials and Methods Dogs that underwent CT of the head followed by routine surgery for brachycephalic obstructive airway syndrome were recruited in this study.
S. L. Yuen, M. A. Genain, J. F. Ladlow, N.‐C. Liu   +3 more
wiley   +1 more source

Ectrodactyly and lethal pulmonary acinar dysplasia associated with homozygous FGFR2 mutations identified by exome sequencing [PDF]

, 2016
First published: 11 July 2016Abstract not availableChristopher P. Barnett, Nathalie J. Nataren, Manuela Klingler-Hoffmann, Quenten Schwarz, Chan-Eng Chong, Young K. Lee, Damien L. Bruno, Jill Lipsett, Andrew J. McPhee, Andreas W. Schreiber, Jinghua Feng,
Barnett, C., Bruno, D., Chong, C., Feng, J., Hahn, C., Klingler-Hoffmann, M., Lee, Y., Lipsett, J., Mcphee, A., Nataren, N., Schreiber, A., Schwarz, Q., Scott, H.   +12 more
core   +1 more source

Genetic and Molecular Determinants of Familial Transmission of Skeletal Malocclusions

Orthodontics &Craniofacial Research, EarlyView.
ABSTRACT Families studies conducted in different ethnic populations worldwide have helped elucidate the molecular and genetic factors involved in the development of skeletal class III malocclusion. Therefore, the aim of this study is to provide an updated summary.
Alexandra Dehesa‐Santos, Lucia Carreño‐Gomez, Rosa Yañez‐Vico, Alejandro Iglesias‐Linares   +3 more
wiley   +1 more source

Gain-of-Function Mutations in ZIC1 Are Associated with Coronal Craniosynostosis and Learning Disability [PDF]

, 2015
Human ZIC1 (zinc finger protein of cerebellum 1), one of five homologs of the Drosophila pair-rule gene odd-paired, encodes a transcription factor previously implicated in vertebrate brain development.
Forecki, J. (Jennifer), Goos, J.A.C. (Jacqueline), Hoogeboom, A.J.M. (Jeannette), Leguin, M. (Maarten), Mathijssen, I.M.J. (Irene), McGowan, S.J. (Simon J.), Merzdorf, C.S. (Christa S.), Miller, K.A. (Kerry A.), Ouweland, A.M.W. (Ans) van den, Pauws, E. (Erwin), Richardson, I.C.A. (Ivy C.A.), Spek, P.J. (Peter) van der, Swagemakers, S.M.A. (Sigrid), Twigg, S.R.F. (Stephen), Van antwerp, D. (Daniel), Wall, S.A. (Steven), Westbury, I. (Isabelle), Wilkie, A.O.M. (Andrew)   +17 more
core   +1 more source

Intronic Single Nucleotide Polymorphisms in FGFR2 Gene Association With Non‐Syndromic Mandibular Retrognathism

Orthodontics &Craniofacial Research, EarlyView.
ABSTRACT Objective Mandibular retrognathism (MR) is a skeletal malocclusion in which patients have a deficient mandibular length, resulting in a more posterior position of the mandible. We aimed to investigate the association between Single nucleotide polymorphisms (SNPs) in Fibroblast Growth Factor Receptor 2 (FGFR2) gene and MR in germans.
Caio Luiz Bitencourt Reis, Christian Kirschneck, Daniel Hemming, Eva Paddenberg‐Schubert, Peter Proff, Daniela Silva Barroso de Oliveira, Cristiano Miranda de Araujo, Flares Baratto‐Filho, Svenja Beisel‐Memmert, Erika Calvano Küchler   +9 more
wiley   +1 more source

Craniosynostosis: current conceptions and misconceptions

AIMS Genetics, 2016
Cranial bones articulate in areas called sutures that must remain patent until skull growth is complete. Craniosynostosis is the condition that results from premature closure of one or more of the cranial vault sutures, generating facial deformities and ...
Cristiane Sá Roriz Fonteles, Richard H. Finnell, Timothy M. George, Raymond J. Harshbarger   +3 more
doaj   +1 more source

Genetic Diagnoses Among Congenital Anomaly Cases in Europe: Data From the EUROCAT Network

Paediatric and Perinatal Epidemiology, EarlyView.
ABSTRACT Background Surveillance of congenital anomaly prevalence over time can identify new teratogens. Anomalies with a genetic cause are excluded from the monitoring. Objectives We examined temporal changes in the proportion of genetic diagnoses among cases with a congenital anomaly.
Jorieke E. H. Bergman, Annie Perraud, Ester Garne, Ingeborg Barisic, David Tucker, Elisa Ballardini, Lea Bruneau, Clara Cavero‐Carbonell, Ianis Cousin, Miriam Gatt, Katya Kovacheva, Anna Latos‐Bielenska, Mary O'Mahony, Isabelle Monier, Isabelle Perthus, Riccardo Pertile, Anke Rissmann, Florence Rouget, Michelle Santoro, Joanna Sichitiu, Christine Verellen‐Dumoulin, Wladimir Wertelecki, Diana Wellesley, Joan K. Morris   +23 more
wiley   +1 more source

Mechanical loading of cranial joints minimizes the craniofacial phenotype in Crouzon syndrome

Scientific Reports, 2022
Children with syndromic forms of craniosynostosis undergo a plethora of surgical interventions to resolve the clinical features caused by the premature fusion of cranial sutures.
Mehran Moazen, Mahbubeh Hejazi, Dawn Savery, Dominic Jones, Arsalan Marghoub, Ali Alazmani, Erwin Pauws   +6 more
doaj   +1 more source