Results 31 to 40 of about 406,691 (285)

Diagnostic utility of next-generation sequencing-based panel testing in 543 patients with suspected skeletal dysplasia

Orphanet Journal of Rare Diseases, 2021
Background Skeletal dysplasia is typically diagnosed using a combination of radiographic imaging, clinical examinations, and molecular testing. Identifying a molecular diagnosis for an individual with a skeletal dysplasia can lead to improved clinical ...
Alicia Scocchia, Tiia Kangas-Kontio, Melita Irving, Matti Hero, Inka Saarinen, Liisa Pelttari, Kimberly Gall, Satu Valo, Johanna M. Huusko, Jonna Tallila, Johanna Sistonen, Juha Koskenvuo, Tero-Pekka Alastalo   +12 more
doaj   +1 more source

Skeletal Dysplasia

Donald School Journal of Ultrasound in Obstetrics and Gynecology, 2011
ABSTRACT The word dysplasia originates from the ancient Greek words dys (anomalous) and plasia (formation). Skeletal dysplasia (SD) is a heterogeneous group of congenital anomalies characterized by abnormalities in the development of bone and cartilage tissues.
Antsaklis, A., Anastasakis, E.
openaire   +2 more sources

The natural history of acetabular dysplasia and later total hip arthroplasty in late-detected DDH: 48 patients with closed reduction followed to a mean age of 62 years

Acta Orthopaedica, 2023
Background and purpose: The long-term prognosis of acetabular dysplasia without subluxation in developmental dislocation of the hip (DDH) is uncertain.
Terje Terjesen
doaj   +1 more source

Prenatal diagnosis of fetal skeletal dysplasia using targeted next-generation sequencing: an analysis of 30 cases

Diagnostic Pathology, 2019
Background This study aims to provide genetic diagnoses for 30 cases of fetal skeletal dysplasia, and a molecular basis for the future prenatal diagnosis of fetal skeletal dysplasia.
Yan Liu, Li Wang, Yi-Ke Yang, Ying Liang, Tie-Juan Zhang, Na Liang, Li-Man Yang, Si-Jing Li, Dan Shan, Qing-Qing Wu   +9 more
doaj   +1 more source

Perinatal lethal skeletal dysplasia: a case report [PDF]

, 2016
The word dysplasia originates from ancient Greek words dys (anomalous) and plasia (formation). Skeltal dysplasia (SD) is a heterogeneous group of congenital anomalies characterized by abnormalities in the development of the bone and cartilage tissue ...
Goel, Poonam, Dubey, Sunita, Verma, Meesha   +2 more
core   +1 more source

Complications and Revisions After Spine Surgery in Patients With Skeletal Dysplasia: Have We Improved?

Global Spine Journal, 2023
Study Design: Retrospective case series. Objective: To report contemporary rates of complications and subsequent surgery after spinal surgery in patients with skeletal dysplasia.
Karim Shafi MD, Francis Lovecchio MD, Maria Sava BA, Michael Steinhaus MD, Andre Samuel MD, Erin Carter MS, Darren Lebl MD, MBA, James Farmer MD, Cathleen Raggio MD   +8 more
doaj   +1 more source

Schimke immunoosseous dysplasia: defining skeletal features [PDF]

, 2010
Schimke immunoosseous dysplasia (SIOD) is an autosomal recessive multisystem disorder characterized by prominent spondyloepiphyseal dysplasia, T cell deficiency, and focal segmental glomerulosclerosis.
ALPAY, HARİKA
core   +3 more sources

In vivo direct lentiviral gene therapy improves disease pathology in a mucopolysaccharidosis IVA murine model

Molecular Therapy: Methods & Clinical Development
Mucopolysaccharidosis IVA (MPS IVA) is an autosomal recessive disorder that causes the accumulation of keratan sulfate (KS) and chondroitin-6-sulfate in bone and cartilage.
Betul Celik, Estera Rintz, Shaukat Khan, Andrés Felipe Leal, Fnu Nidhi, Shunji Tomatsu   +5 more
doaj   +1 more source

Morphology and development of a novel murine skeletal dysplasia [PDF]

PeerJ, 2019
Background Limb bones develop and grow by endochondral ossification, which is regulated by specific cell and molecular pathways. Changes in one or more of these pathways can have severe effects on normal skeletal development, leading to skeletal ...
Marta Marchini, Elizabeth Silva Hernandez, Campbell Rolian   +2 more
doaj   +2 more sources

Nutrition Issues and Management Strategies in Individuals with a Skeletal Dysplasia: A Scoping Review

, 2023
This systematic scoping review aimed to identify key nutrition issues, management strategies and gaps in knowledge regarding nutrition in skeletal ...
Natassja Billich
core   +1 more source