Results 91 to 100 of about 7,277 (195)

Anatomical Characteristics of Cervicomedullary Compression on MRI Scans in Children with Achondroplasia

Journal of Imaging
This retrospective study assessed anatomical characteristics of cervicomedullary compression in children with achondroplasia. Twelve anatomical parameters were analyzed (foramen magnum diameter and area; myelon area; clivus length; tentorium and ...
Isabella Trautwein, Daniel Behme, Philip Kunkel, Jasper Gerdes, Klaus Mohnike   +4 more
doaj   +1 more source

A neuromuscular and kinematic description of human adults with achondroplasia [PDF]

, 2018
Skeletal dysplasia is an umbrella term used to describe individuals with an abnormality to the skeleton. There are more than 350 reported skeletal dysplasias with the more common name for the term being ‘dwarfism’. The prevalence of skeletal dysplasia is
Sims, David Thomas
core  

Successful obstetric and anesthetic management using fluoroscopic-guided epidural anesthesia for cesarean section in a patient with achondroplasia: A case report

Taiwanese Journal of Obstetrics & Gynecology
Objective: Achondroplasia is a skeletal disorder characterized by shortened limbs and short stature. Pregnancy in women with achondroplasia requires individualized management due to its distinctive physical characteristics.
Saeko Ishioka, Tasuku Mariya, Natsumi Kii, Motonobu Kimizuka, Masayuki Someya, Tsuyoshi Saito   +5 more
doaj   +1 more source

Clinical, anthropometric, radiological and molecular characteristics of Egyptian achondroplasia patients [PDF]

, 2009
Background: Achondroplasia is the most common form of non lethal skeletal dysplasia. It is a fully penetrant autosomal dominant disorder and the majority of cases are sporadic resulting from de novo mutations associated with advanced paternal age.
EL-Katoury, A IS, Hafez, MH, Abdel-Aleem, AK, Otaify, GA, Temtamy, SA, Saleem, SN, Aglan, MS   +6 more
core  

Poster Session 1

Pregnancy, Volume 2, Issue S2, September 2026.
wiley   +1 more source

Perioperative Complications Following Spine Surgery in Adult Patients with Achondroplasia

Global Spine Journal
Study Design Retrospective cohort study Objectives To describe the common types of complications and their risk factors during spine surgery in patients with achondroplasia.
Julie L. Chan MD, PhD, Miguel D. Quintero-Consuegra MD, Linda E.A. Kanim MA, Michael A. Kropf MD, Robert Bernstein MD, Tiffany G. Perry MD, Corey T. Walker MD, Moise Danielpour MD, Alexander Tuchman MD   +8 more
doaj   +1 more source

Recent therapeutic progress to treat achondroplasia in children

Achondroplasia is the most common form of genetically inherited dwarfism. Affected individuals are mainly characterized by severely shortened arms and legs and a large head.
Stefan Bittmann
core   +1 more source

Functional performance in young Australian children with achondroplasia

, 2011
Aim:  The aim of this study was to determine population-specific developmental milestones for independence in self-care, mobility, and social cognitive skills in children with achondroplasia, the most common skeletal dysplasia. Methods:  Population-based
Savarirayan, Ravi, Zankl, A., SHARRON TOWNSHEND, Ware, R., Ware, Robert S., Ireland, Penelope Jane, Johnston, L., Sillence, D., JAMES MCGILL, Ireland, P., PENELOPE JANE IRELAND, Savarirayan, R., ELIZABETH M THOMPSON, Zankl, Andreas, Johnston, Leanne Marie, McGill, J., Mcgill, James, LEANNE MARIE JOHNSTON, Ault, Jenny, Townshend, Sharron, Thompson, Elizabeth M., Sillence, David O., VERITY PACEY, Townshend, S., Ware, Robert S, Ault, J., Pacey, Verity, McGill, James J., Ault, Jenny E., RAVI SAVARIRAYAN, Pacey, V., ROBERT S WARE, DAVID SILLENCE, Thompson, Elizabeth M, JENNY AULT, ANDREAS ZANKL, Thompson, E., Sillence, David, Ireland, Penelope J.   +38 more
core   +1 more source

Molecular Confirmation of G1138A Mutation in FGFR gene in Achondroplasia

, 2018
Introduction: Achondroplasia (ACH) is the most common form of skeletal dysplasia of genetic origin in humans which is characterized by disproportionate rhizomelic dwarfism.
Mitesh Shrestha, Hemanta Kumari Chaudhary, Shyam Bahadur Khanal, Smita Shrestha, Rohit Kumar Pokharel   +4 more
core   +1 more source

Spinal Stenosis in Achondroplasia – A Case Report and Review of the Literature

Journal of Orthopaedic Case Reports
Introduction: Achondroplasia, the most common skeletal dysplasia, often presents with congenital lumbar spinal stenosis. In skeletally mature adults without instability, the choice between decompression alone and decompression with fusion remains debated.
Dileepan Chakrawarthi, D Vijayakumar
doaj   +1 more source