Results 71 to 80 of about 1,547 (171)

Multiple Epiphyseal Dysplasia: A Clinical and Molecular Genetic Study [PDF]

, 1998
Multiple epiphyseal dysplasia (MED) is one of the most common osteochondrodysplasias [Wynne-Davies and Gormley 1985]. During childhood and adolescence it affects the epiphyses of the tubular bones, resulting in axial deformities and shorter limbs.·Later ...
Mourik, J.B.A. (Jan) van
core   +1 more source

Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A12 Locus

, 1995
Item does not contain ...
Goldring, Mary B, Olsen, BR, Vikkula, Miikka, Zhidkova, Natalia I, Mayne, R, de Waal Malefijt, Maarten C, Tiller, G.E., Ropers, H.H., Cheah, Kathryn S.E, Madman, Edwin C.M, Cheah, K.S.E., Brunner, Han G, Van den Hoogen, FHJ, Vikkula, M., Zhidkova, NI, Zhidkova, N.I., Lui, VCH, Mayne, R., Hoogen, F.H.J. van den, Waal Malefijt, M.C. de, Mariman, E.C.M., Beersum, S.E.C. van, Brunner, H.G., Mariman, ECM, Ropers, H.-H., De Waal Malefijt, MC, Olsen, Bjorn R, Tiller, GE, Tiller, George E, Goldring, M.B., Cheah, KSE, Mayne, Richard, Warman, M.L., Brunner, HG, van Beersum, Sylvia E.C, Ropers, Hans-Hilger, Lui, V.C.H., Goldring, MB, Van Beersum, SEC, Vikkula, M, Ropers, HH, Olsen, B.R., Warman, ML, Warman, Matthew L, van den Hoogen, Frank H.J, Lui, Vincent C.H   +45 more
core   +1 more source

The Hip in Osteochondrodysplasias: General Rules for Diagnosis and Treatment

, 2009
The management of hip pathology in osteochondrodysplasia (skeletal dysplasia) is complex and a multidisciplinary approach is vital. Thorough clinical assessment and knowledge of the natural history of the different disorders provides the basis for this.
B. D. Sheridan, M. F. Gargan, F. P. Monsell   +2 more
core   +1 more source

Joint Space Widening in Multiple Epiphyseal Dysplasia. [PDF]

Dtsch Arztebl Int, 2023
Madry H.
europepmc   +1 more source

Poul Erik Andersen's radiological work on Osteochondrodysplasias and interventional radiology

, 2011
Poul Erik Andersen is a Professor and Interventional Radiologist at the University of Southern Denmark, Odense and Odense University Hospital, Denmark.
Poul Erik Andersen, Andersen, Poul Erik
core   +1 more source

The burden of hospital admissions for skeletal dysplasias in Sri Lanka: a population-based study. [PDF]

Orphanet J Rare Dis, 2023
Kolambage YD, Walpita YN, Liyanage UA, Dayaratne BMKDR, Dissanayake VHW.   +4 more
europepmc   +2 more sources

Pseudoachondroplasia and multiple epiphyseal dysplasia: Mutation review, molecular interactions, and genotype to phenotype correlations

, 2002
Pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED) constitute a bone dysplasia family, which is both genetically and phenotypically heterogeneous. The disease spectrum ranges from mild MED, which manifests with pain and stiffness in the
Briggs, Michael D., Chapman, Kathryn L.
core   +1 more source

The prevalence of skeletal dysplasias. An estimate of their minimum frequency and the number of patients requiring orthopaedic care

, 1985
An attempt has been made to estimate the number of living people with skeletal dysplasias (osteochondrodysplasias) in Scotland, England and Wales, ascertained through five orthopaedic centres in different parts of Britain.
R Wynne-Davies, J Gormley
core   +1 more source

Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum

, 2016
International audienceOtopalatodigital spectrum disorders (OPDSD) constitute a group of dominant X-linked osteochondrodysplasias including four syndromes: otopalatodigital syndromes type 1 and type 2 (OPD1 and OPD2), frontometaphyseal dysplasia, and ...
Hubert, Christophe, Julie Bouron, Marie-Laure Vuillaume, Houcinat, Nada,, Albert David, Julie Deforges, Baumann, Clarisse,, Hubert Journel, Megarbane, Andre, Genevieve, David,, Moutton, Sébastien, Caroline Abadie, Hubert, Christophe,, Megarbane, Andre,, Vuillaume, Marie-Laure, Houcinat, Nada, Patricia Fergelot, Elodie Guerineau, Stattin, Eva-Lena,, Geneviève, David, Sébastien Moutton, Marie-Pierre Cordier, Le Merrer, Martine, Guilhem Solé, Laurence Faivre, Sylvie Devès, Francannet, Christine,, Naudion, Sophie,, Solé, Guilhem, Lacombe, Didier, Giuliano, Fabienne, Danielle Leclair, Fergelot, Patricia,, Sarda, Pierre,, Goizet, Cyril, Deforges, Julie,, Delrue, Marie-Ange,, Leclair, Danielle,, Rooryck, Caroline, Giuliano, Fabienne,, Coupry, Isabelle, Delrue, Marie-Ange, Abadie, Caroline,, Chassaing, Nicolas, Nada Houcinat, Cordier, Marie-Pierre, Sole, Guilhem,, Fabienne Giuliano, Vuillaume, Marie-Laure,, Sophie Naudion, Moutton, Sebastien,, Bouron, Julie,, Arveiler, Benoit, Cordier, Marie-Pierre,, Vigneron, Jacqueline, Arveiler, Benoit,, Naudion, Sophie, Leclair, Danielle, Stattin, Eva-Lena, Benoit Arveiler, Isabelle Coupry, Marie-Ange Delrue, Journel, Hubert,, Sarrazin, Elisabeth, Pierre Sarda, Chassaing, Nicolas,, Vigneron, Jacqueline,, David, Albert, Cyril Goizet, Martine Le Merrer, Goizet, Cyril,, Clarisse Baumann, David Geneviève, Faivre, Laurence,, Christophe Hubert, Guerineau, Elodie, Rooryck, Caroline,, Eva-Lena Stattin, Lacombe, Didier,, André Megarbane, Fergelot, Patricia, Journel, Hubert, Sarda, Pierre, Le Merrer, Martine,, Deforges, Julie, Jacqueline Vigneron, Guerineau, Elodie,, Caroline Rooryck, Christine Francannet, Abadie, Caroline, Coupry, Isabelle,, Bouron, Julie, Sarrazin, Elisabeth,, Elisabeth Sarrazin, Nicolas Chassaing, Deves, Sylvie,, Francannet, Christine, Devès, Sylvie, Faivre, Laurence, Baumann, Clarisse, David, Albert,, Didier Lacombe   +101 more
core   +1 more source

Diastrophic dysplasia: prenatal diagnosis and review of the literature Displasia diastrófica: diagnóstico pré-natal e revisão da literatura

São Paulo Medical Journal, 2013
CONTEXT Diastrophic dysplasia is a type of osteochondrodysplasia caused by homozygous mutation in the gene DTDST (diastrophic dysplasia sulfate transporter gene).
Jonathan Celli Honório, Rafael Frederico Bruns, Luciana Fernandes Gründtner, Salmo Raskin, Lilian Pereira Ferrari, Edward Araujo Júnior, Luciano Marcondes Machado Nardozza   +6 more
doaj