Results 31 to 40 of about 62,388 (273)

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

Arterial dysgenesis and limb defects : Clinical and experimental examples [PDF]

, 2017
Acknowledgements This article is dedicated to Dr David S. Packard Jr. With thanks to Dr John DeSesso, Dr Lewis B. Holmes, Dr Mark Levinsohn, Dr David S.
Hootnick, David R., Vargesson, Neil
core   +1 more source

Hearing impairment in Stickler syndrome: a systematic review [PDF]

, 2012
BACKGROUND: Stickler syndrome is a connective tissue disorder characterized by ocular, skeletal, orofacial and auditory defects. It is caused by mutations in different collagen genes, namely COL2A1, COL11A1 and COL11A2 (autosomal dominant inheritance ...
Acke, Frederic, De Leenheer, Els, Dhooge, Ingeborg, Malfait, Fransiska   +3 more
core   +2 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

International guidelines for the management and treatment of Morquio A syndrome. [PDF]

, 2014
Morquio A syndrome (mucopolysaccharidosis IVA) is a lysosomal storage disorder associated with skeletal and joint abnormalities and significant non-skeletal manifestations including respiratory disease, spinal cord compression, cardiac disease, impaired ...
Berger, Kenneth I, Giugliani, Roberto, Harmatz, Paul, Hendriksz, Christian J, Kampmann, Christoph, Mackenzie, William G, Raiman, Julian, Savarirayan, Ravi, Villarreal, Martha Solano   +8 more
core   +2 more sources

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

Spinal involvement in mucopolysaccharidosis IVA (Morquio-Brailsford or Morquio A syndrome): presentation, diagnosis and management. [PDF]

, 2013
Mucopolysaccharidosis IVA (MPS IVA), also known as Morquio-Brailsford or Morquio A syndrome, is a lysosomal storage disorder caused by a deficiency of the enzyme N-acetyl-galactosamine-6-sulphate sulphatase (GALNS). MPS IVA is multisystemic but manifests
A Goel, A McDonald, AA Madawi, AL Brooks, AM McLaughlin, AM Montano, AO Ransford, Christian G. Lampe, Christian J. Hendriksz, Christina Lampe, CO Oluigbo, D Shukla, DC Holte, DD Horovitz, DG Hughes, E Castel, ES Lustrin, F Sala, G Solanki, GA Solanki, GA Solanki, GA Solanki, GA Solanki, Guirish A. Solanki, H Elgafy, H Northover, HR Harnsberger, J Ashraf, J Harms, J Nelson, J Nelson, JE Wraith, JF Brailsford, JJ McGill, JK Houten, JM Stevens, JS Torg, JT Kessler, KA Morgan, Kenneth W. Martin, KG Belani, KK White, Klane K. White, L Morquio, M Furujo, Mary C. Theroux, MC Ain, MC Theroux, MD Helgeson, ME Blaw, Michael Beck, MJ Krammer, MM Stecker, O Svensson, P Beighton, Paul R. Harmatz, R Ahmed, R Boor, R Claybrooks, R Lachman, R Lachman, Renée Shediac, RJ Bransford, RW Haid Jr, RW Walker, S Dalvie, S Tomatsu, S Tomatsu, S Ulkatan, SD Boden, SH Lee, SJ Lipson, SY Shinhar, T Gunnarsson, T Henriques, W Müller-Forell, WE Gallie, WG Mackenzie, William G. Mackenzie   +78 more
core   +2 more sources

Complex orthopaedic management of patients with skeletal dysplasias

Travmatologiâ i Ortopediâ Rossii, 2016
Skeletal dysplasias are challenging for diagnostics and treatment. We present a series of fifteen patients with different forms of skeletal dysplasias with age ranged from 6 to 17 years with variable clinical presentations managed as a part of the ...
A. G. Baindurashvili, V. M. Kenis, E. V. Melchenko, F. Grill, A. Al-Kaissi   +4 more
doaj   +1 more source

Truncation of POC1A associated with short stature and extreme insulin resistance [PDF]

, 2015
We describe a female proband with primordial dwarfism, skeletal dysplasia, facial dysmorphism, extreme dyslipidaemic insulin resistance and fatty liver associated with a novel homozygous frameshift mutation in POC1A, predicted to affect two of the three ...
Adams, Claire, Barrett, Jeff, Barroso, Inês, Chen, Jian Hua, Durbin, Richard, Farooqi, Sadaf, Fitzpatrick, David, Geschwind, Daniel, Huang Doran, Isabel, Hurles, Matt, Kaye, Jane, Keane, Thomas, Kennedy, Karen, Langford, Cordelia, Mccarthy, Shane, Muddyman, Dawn, Owen, Michael, O’Rahilly, Stephen, Palotie, Aarno, Payne, Felicity, Richards, Bren, Savage, David B., SEGNI, Maria, Semple, Robert K., Sleigh, Alison, Soranzo, Nicole, Spector, Tim, Stalker, Jim, Timpson, Nic, Zeggini, Eleftheria   +29 more
core   +3 more sources

A novel FLNA variant in a fetus with skeletal dysplasia

Human Genome Variation, 2022
Otopalatodigital spectrum disorder (OPDSD) is characterized by variable phenotypes, including skeletal dysplasia, and is caused by pathogenic variants in filamin A-encoding FLNA.
Kyoko Oshina, Yoshimasa Kamei, Asuka Hori, Fuyuki Hasegawa, Kosuke Taniguchi, Ohsuke Migita, Atsuo Itakura, Kenichiro Hata   +7 more
doaj   +1 more source