Results 1 to 10 of about 1,854 (192)

Pseudoachondroplasia: A case report [PDF]

Srpski Arhiv za Celokupno Lekarstvo, 2013
Introduction. Pseudoachondroplasia (PSACH) is an autosomal dominant osteochondrodysplasia due to mutations in the gene encoding cartilage oligomeric matrix protein. It is characterized by rhizomelic dwarfism, limb and vertebral deformity, joint laxity
Radlović Vladimir, Smoljanić Željko, Radlović Nedeljko, Jakovljević Miroslav, Leković Zoran, Dučić Siniša, Pavićević Polina   +6 more
doaj   +3 more sources

Diastrophic dysplasia: prenatal diagnosis and review of the literature [PDF]

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   +4 more sources

The Fetus Points to the Diagnosis of Rare Skeletal Dysplasia: Stuve–wiedemann Syndrome: Retrospective Case Series and Prenatal Review [PDF]

Journal of Medical Ultrasound
Background: Stuve–Wiedemann syndrome (SWS) is a rare skeletal abnormality with extensive postnatal literature but limited prenatal studies. Our group had published a diagnostic algorithm to identify prenatal cases, yet, the challenge continues ...
Muzibunnisa A Begam, Muhammad Hasan, Fares Chedid, Hisham Mirghani   +3 more
doaj   +2 more sources

Acromesomelic Dysplasia With Homozygosity for a Likely Pathogenic BMPR1B Variant: Postaxial Polydactyly as a Novel Clinical Finding [PDF]

Molecular Genetics & Genomic Medicine
Background Acromesomelic chondrodysplasias are a rare subgroup of the clinically and genetically heterogeneous osteochondrodysplasias that are characterised by abnormalities in the limb development and short stature.
Ibrahim M. Abdelrazek, Alexej Knaus, Behnam Javanmardi, Peter M. Krawitz, Denise Horn, Ebtesam M. Abdalla, Sheetal Kumar   +6 more
doaj   +2 more sources

Clinical, genetical, radiological, and anatomopathological survey of 17 patients with lethal osteochondrodysplasias

Genetics and Molecular Biology, 1998
Seventeen patients thought to have lethal osteochondrodysplasias were evaluated. Diagnosis was established through clinical evaluation, radiological studies and necropsy. Genetic counseling was provided to the affected patient's families.
Marcial Francis Galera, Francy Reis da S. Patrício, Mirlene Cecília S. Pinho Cernach, Henrique Manoel Lederman, Decio Brunoni   +4 more
doaj   +3 more sources

Frequency of skeletal dysplasia in children with short stature presenting to endocrine clinic: An observational study

Journal of Family Medicine and Primary Care, 2022
Objective: To determine the frequency of skeletal dysplasia in children with short stature presenting to the endocrine clinic of a tertiary care hospital.
Seema, Saira Abbas, Muhammad Nadeem Ahsan, Muhammad Sohaib Asghar   +3 more
doaj   +1 more source

Hip sonography: thirty-four years of experience in Italy [PDF]

Exploration of Musculoskeletal Diseases
This paper provides a review of the years of experience of hip sonography since the first ultrasound (US) course in Italy in 1987. Clinical and US findings were correlated in 1,000 newborns examined consecutively in a study in 1991.
Maurizio De Pellegrin, Dario Fracassetti, Lorenzo Marcucci, Nicola Guindani   +3 more
doaj   +1 more source

Clinical and molecular characterization of a Brazilian cohort of campomelic dysplasia patients, and identification of seven new SOX9 mutations

Genetics and Molecular Biology, 2015
Campomelic dysplasia (CD) is an autosomal, dominantly inherited, skeletal abnormality belonging to the subgroup of bent bone dysplasias. In addition to bowed lower limbs, CD typically includes the following: disproportionate short stature, flat face ...
Eduardo P. Mattos, Maria Teresa V. Sanseverino, José Antônio A. Magalhães, Júlio César L. Leite, Temis Maria Félix, Luiz Alberto Todeschini, Denise P. Cavalcanti, Lavinia Schüler-Faccini   +7 more
doaj   +1 more source

A cephalometric method to diagnosis the craniovertebral junction abnormalities in osteogenesis imperfecta patients [PDF]

, 2015
Osteogenesis imperfecta (OI) is a hereditary bone fragility disorder that in most patients is caused by mutations affecting collagen type I. Their typical oral and craneofacial characteristics (Dentinogenesis imperfecta type I and class III malocclusion),
de Nova García, Joaquín, Feijóo, Gonzalo, Garcilazo, Mario, Gutiérrez Díez, María Pilar, Mourelle Martínez, Mª Rosa, Ortega Aranegui, Ricardo, Ríos Rodenas, Mercedes   +6 more
core   +2 more sources

Congenital malformations [PDF]

, 2012
Congenital malformations are single or multiple defects of the morphogenesis of organs or body districts identifiable at birth or during the intrauterine life. Their global birth prevalence is about 2–3%.
CORSELLO, Giovanni, GIUFFRE, Mario
core   +1 more source