Results 61 to 70 of about 1,602 (170)

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  

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

Joint Space Widening in Multiple Epiphyseal Dysplasia. [PDF]

Dtsch Arztebl Int, 2023
Madry H.
europepmc   +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

Clinical Epidemiology Of Skeletal Dysplasias In South America

, 2015
Currently accepted birth prevalence for osteochondrodysplasias (OCD) of about 2/10,000 is based on few studies from small series of cases. We conducted a study based on more than 1.5 million births. OCD cases were detected from 1,544,496 births occurring
Castilla E.E., da Graca Dutra M., Cavalcanti D.P., Barbosa-Buck C.O., Lopez-Camelo J., Orioli I.M.   +5 more
core   +1 more source

Osteochondrodysplasias

, 2013
Yasemin Alanay, David L. Rimoin
core   +1 more source

Short stature with windswept deformity in a young girl. [PDF]

JCEM Case Rep
Sai Ramya V, Kumar S, Guddeti A, Hari Kumar KVS.   +3 more
europepmc   +1 more source

Case report: anesthetic management for a partial nephrectomy in a patient with tracheobronchopathia osteoplastica. [PDF]

BMC Pulm Med
Luo Y, Wu Z, Zhang X, Li H, Zou X.
europepmc   +1 more source