Results 1 to 10 of about 1,394 (123)

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

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

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

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   +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

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   +1 more source

What is new in genetics and osteogenesis imperfecta classification?

Jornal de Pediatria (Versão em Português), 2014
Objective: Literature review of new genes related to osteogenesis imperfecta (OI) and update of its classification. Sources: Literature review in the PubMed and OMIM databases, followed by selection of relevant references.
Eugênia R. Valadares, Túlio B. Carneiro, Paula M. Santos, Ana Cristina Oliveira, Bernhard Zabel   +4 more
doaj   +3 more sources

Ischiofemoral impingement due to a solitary exostosis

Journal of the Belgian Society of Radiology, 2015
Ischiofemoral impingement is a rare cause of hip pain related to narrowing of the space between the ischial tuberosity and the lesser trochanter. It is usually seen in middle-aged women.
J. Schatteman, Filip M. Vanhoenacker, J. Somville, K. L. Verstraete   +3 more
doaj   +1 more source

Spinal anesthesia in a patient with Schwartz–Jampel syndrome

JA Clinical Reports, 2020
Background Schwartz–Jampel syndrome (SJS) is a very rare inherited disorder characterized by multiple skeletal deformities, limited joint mobility, micrognathia, blepharophimosis, myotonia, and growth retardation.
Osama Shaalan, Mahmoud Daoud, Ashraf EL-Molla, Rashed Al-Otaibi, Abdulaleem Alatassi   +4 more
doaj   +1 more source