Results 21 to 30 of about 11,039 (220)

Surgical outcome after treatment of thoracolumbar spinal stenosis in adults with achondroplasia [PDF]

European spine journal
To describe the complications and the outcome of patients with achondroplasia undergoing thoracolumbar spinal surgery. Retrospective analysis of prospectively collected data of all patients with achondroplasia undergoing surgery within the years 1992 ...
Lukas Urbanschitz, Dezsö Jeszenszky, Mario Ropleato, T. Fekete   +3 more
openalex   +2 more sources

Achondroplasia Berulang pada Orangtua dengan Perawakan Normal: Laporan Kasus

Obgynia, 2023
Achondroplasia adalah penyebab paling umum dari perawakan pendek yang tidak proporsional. Individu yang terkena memiliki pemendekan rhizomelia pada anggota badan, makrosefali, dan fitur wajah yang khas.
Fatima Zahra, Adhi Pribadi
doaj   +1 more source

Interpretation on Key Points of International Consensus Statement on the Diagnosis, Multidisciplinary Management and Lifelong Care of Individuals with Achondroplasia [PDF]

Zhongguo quanke yixue, 2023
Achondroplasia is a rare disease leading to growth and developmental disorders in children, mainly manifested as skeletal dysplasia and disproportionate short stature, which can lead to respiratory abnormalities, hearing loss, spinal involvement, limb ...
SUN Wenwen, LIU Jing, KONG Dexian, ZHANG Zhimin, MA Huijuan
doaj   +1 more source

Achondroplasia

Pediatrics In Review, 2019
This chapter reviews the incidence, recurrence risk, and etiology of achondroplasia, the most common skeletal dysplasia. This may be suspected by US in the late second trimester. The clinical features at birth are characteristic with macrocephaly, rhizomelic shortening and a trident hand. Radiographs can confirm the diagnosis. Molecular testing may not
Robin D. Clark, Cynthia J. Curry
  +6 more sources

Left Main Coronary Artery Bifurcation Coronary Intervention in a Patient with Achondroplasia with Multivessel Coronary Artery Disease

Indian Journal of Medical Specialities, 2022
We report a rare case of critical coronary artery disease in a 62-year-old male with achondroplasia. There is a paucity of case reports of association of achondroplasia with coronary artery disease.
Debasish Das, Anindya Banerjee, Abhinav Kumar, Tutan Das, Shashikant Singh, Jaideep Das Gupta, Manaranjan Dixit   +6 more
doaj   +1 more source

Growth patterns of young achondroplasia patients in Korea and predictability of neurosurgical procedures

Orphanet Journal of Rare Diseases, 2023
Background Achondroplasia is an autosomal dominant disorder mainly affecting bony growth, typically resulting in markedly short stature. From a neurosurgical viewpoint, patients sometimes develop spinal cord compression at the narrowed foramen magnum and
Jong Seok Lee, Youngbo Shim, Tae-Joon Cho, Seung-Ki Kim, Jung Min Ko, Ji Hoon Phi   +5 more
doaj   +1 more source

Achondroplasia and its oral manifestations

Journal of Primary Care Dentistry and Oral Health, 2023
Achondroplasia is the most common type of skeletal dysplasia that manifests with stunted stature and disproportionate limb shortening. Achondroplasia is of special interest in dentistry because of its typical craniofacial manifestations.
P N Nanmaran, Topi Nyodu, Anisha Bag, Subir Sarkar, Somen Roychowdhury   +4 more
doaj   +1 more source

Total Joint Arthroplasty in Patients With Achondroplasia: Comparison of 90-Day Adverse Events and 5-Year Implant Survival

Arthroplasty Today, 2021
Background: Achondroplasia is the most common skeletal dysplasia, and total joint arthroplasty of the hip and/or knee in this patient population may present unique challenges. Methods: All patients undergoing primary total hip or total knee arthroplasty (
Harold G. Moore, BS, Christopher A. Schneble, MD, Joseph B. Kahan, MD, MPH, Gregory G. Polkowski, MD, MSc, Lee E. Rubin, MD, Jonathan N. Grauer, MD   +5 more
doaj   +1 more source

Consensus Guidelines for the Use of Vosoritide in Children with Achondroplasia in Australia [PDF]

Children
Background: Achondroplasia, the most prevalent skeletal dysplasia, stems from a functional mutation in the fibroblast growth factor receptor 3 gene, leading to growth impairment.
Louise Tofts, Penny Ireland, Tracy Tate, Supriya Raj, Theresa L. Carroll, Craig F. Munns, Stephen Knipe, Katherine Langdon, Lesley McGregor, F. Ellis McKenzie, Andreas Zankl, Ravi Savarirayan   +11 more
openalex   +2 more sources

Achondroplasia.

Proceedings of the Royal Society of Medicine, 2010
Yusra Sheikh
  +5 more sources