Results 31 to 40 of about 903 (178)

Nosology of genetic skeletal disorders: 2023 revision

American Journal of Medical Genetics Part A, Volume 191, Issue 5, Page 1164-1209, May 2023., 2023
Abstract The “Nosology of genetic skeletal disorders” has undergone its 11th revision and now contains 771 entries associated with 552 genes reflecting advances in molecular delineation of new disorders thanks to advances in DNA sequencing technology.
Sheila Unger, Carlos R. Ferreira, Geert R. Mortier, Houda Ali, Débora R. Bertola, Alistair Calder, Daniel H. Cohn, Valerie Cormier‐Daire, Katta M. Girisha, Christine Hall, Deborah Krakow, Outi Makitie, Stefan Mundlos, Gen Nishimura, Stephen P. Robertson, Ravi Savarirayan, David Sillence, Marleen Simon, V. Reid Sutton, Matthew L. Warman, Andrea Superti‐Furga   +20 more
wiley   +1 more source

High Bone Mass Disorders: New Insights From Connecting the Clinic and the Bench

Journal of Bone and Mineral Research, Volume 38, Issue 2, Page 229-247, February 2023., 2023
ABSTRACT Monogenic high bone mass (HBM) disorders are characterized by an increased amount of bone in general, or at specific sites in the skeleton. Here, we describe 59 HBM disorders with 50 known disease‐causing genes from the literature, and we provide an overview of the signaling pathways and mechanisms involved in the pathogenesis of these ...
Dylan J.M. Bergen, Antonio Maurizi, Melissa M. Formosa, Georgina L.K. McDonald, Ahmed El‐Gazzar, Neelam Hassan, Maria‐Luisa Brandi, José A. Riancho, Fernando Rivadeneira, Evangelia Ntzani, Emma L. Duncan, Celia L. Gregson, Douglas P. Kiel, M. Carola Zillikens, Luca Sangiorgi, Wolfgang Högler, Ivan Duran, Outi Mäkitie, Wim Van Hul, Gretl Hendrickx   +19 more
wiley   +1 more source

Clinical characteristics of 10 Chinese patients with melorheostosis and identification of a somatic MAP2K1 variant in one case

Molecular Genetics &Genomic Medicine, Volume 10, Issue 10, October 2022., 2022
We investigated ten Chinese patients with melorheostosisdiagnosed with clinical manifestations and typical radiological findings. Through Sanger sequencing on the LEMD3 gene of all the patient's peripheral blood samples and exome sequencing on the biopsied affected bone and skin tissues of one patient, we first identified somatic variant in MAP2K1 in ...
Xiaojun Han, Yang Xu, Zhanying Wei, Chun Wang, Hua Yue, Zhenlin Zhang   +5 more
wiley   +1 more source

Traumatic Fracture in a Patient with Osteopoikilosis [PDF]

Case Reports in Orthopedics, 2014
We report a case of traumatic humeral neck fracture occurring in a patient with osteopoikilosis after a motorcycle accident. The radiograph revealed the fracture but also multiple bone lesions.
Adeline Du Mortier, Pierre-Louis Docquier   +1 more
doaj   +2 more sources

Osteopoikilosis in the knee [PDF]

Canadian Medical Association Journal, 2011
A 31-year-old man presented to the emergency department with bilateral knee pain after having had a minor fall in the street. On examination, he was in no distress, and he had scratching and bruising over the anterior aspects of both knees. There was some pain to palpation over the right knee,
Emilio Manuel, Padín-Paz, José Antonio, Díaz-Peromingo   +1 more
openaire   +2 more sources

Traumatic Fracture in a patient of Osteopoikilosis with review of literature

Journal of Orthopaedic Case Reports, 2013
Introduction: Osteopoikilosis or osteopathia condensans disseminata is a rare hereditary autosomal dominant sclerosing bone dysplasia. Patients are usually asymptomatic and the diagnosis is usually made incidentally on radiographs which show presence of
Rohan Bansal, Aditya C Pathak, Binoti Sheth, Atul K Patil   +3 more
doaj   +1 more source

Osteopoikilosis: a rare cause of bone pain

Caspian Journal of Internal Medicine, 2015
Background: Osteopoikilosis (OPK) is a rare inherited condition of the bones, transmitted as an autosomal dominant trait characterized by numerous hyperostotic areas that tend to localize in periarticular osseous regions.
Mahbouba Jguirim, Mondher Golli, Amira Mhenni, Walid Mnari, Naceur Bergaoui   +4 more
doaj   +1 more source

Atypical Enostoses—Series of Ten Cases and Literature Review

Medicina, 2020
Bone islands (BI; enostoses) may be solitary or occur in the setting of osteopoikilosis (multiple bone islands) and are sometimes associated with Gardner’s Syndrome (osteopoikilosis and colonic polyposis).
Thomas Bedard, Mujtaba Mohammed, Serenella Serinelli, Timothy A. Damron   +3 more
doaj   +1 more source

Kidney Transplantation for Erdheim‐Chester Disease

Case Reports in Transplantation, Volume 2020, Issue 1, 2020., 2020
Erdheim‐Chester disease is a rare inflammatory disease that infiltrates skeletal and extra‐skeletal tissue. Chronic kidney disease (CKD) in Erdheim‐Chester disease is usually attributed to retroperitoneal lesions that lead to urologic obstruction and hydronephrosis.
Jongwon Yoo, Cynthia Gunsteen, Sima Patel, Ted Clevy-Schneller, Sucha Nand, Divya Jain, Raquel Garcia-Roca, Amishi Desai, Sanjeev Akkina, David Conti   +9 more
wiley   +1 more source

Osteopoikilosis - associated with dwarfism and presenting as painful joint effusion [PDF]

, 2023
Osteopoikilosis is usually asymptomatic with only 15-20% patient having pain or joint effusion. Sclerotic dysplasia has multiple differential diagnosis including benign and malignant etiology. Characteristic features of symmetric, round to oval sclerotic
Benjamin Alex, Suvin R., Sanal Kumar, Rajeev K., Dhanesh S.   +4 more
core   +1 more source