Results 61 to 70 of about 5,366 (132)

Circulating bone biomarkers as indicators of growth in children with achondroplasia

Endocrine and Metabolic Science
Achondroplasia is a hereditary condition caused by a mutation in the FGFR3 receptor leading to impaired growth in children.In a longitudinal study we followed the growth of children with achondroplasia aged from two to fourteen years with regular blood ...
G. Rignol, K. Roberts, A. Slade, C. Czech, M. Ljungberg   +4 more
doaj   +1 more source

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

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

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

Prenatal Diagnosis of Concurrent Achondroplasia and Klinefelter Syndrome

Case Reports in Obstetrics and Gynecology, 2015
Achondroplasia is the most frequent nonlethal skeletal dysplasia, with a prevalence of 1 : 5000 to 1 : 40,000 live births, and it is caused by a fibroblast growth factor receptor alteration.
Esther Perez-Carbajo, Ignacio Zapardiel, Luis Sanfrutos-Llorente, Sara Cruz-Melguizo, Cristina Martinez-Payo, Enrique Iglesias-Goy   +5 more
doaj   +1 more source

Poster Session 1

Pregnancy, Volume 2, Issue S2, September 2026.
wiley   +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

Fgfr3 enhancer deletion markedly improves all skeletal features in a mouse model of achondroplasia

The Journal of Clinical Investigation
Achondroplasia, the most prevalent short-stature disorder, is caused by missense variants overactivating the fibroblast growth factor receptor 3 (FGFR3).
Marco Angelozzi, Arnaud Molin, Anirudha Karvande, Ángela Fernández-Iglesias, Samantha Whipple, Andrew M. Bloh, Véronique Lefebvre   +6 more
doaj   +1 more source

Achondroplasia: Current Disease-Modifying Therapies and Genome Editing Strategies. [PDF]

Int J Mol Sci
Kondrateva E, Smirnikhina S.
europepmc   +1 more source

Consensus statement on the management of Achondroplasia in the Middle East. [PDF]

Front Endocrinol (Lausanne)
Thalange N, Ben Omran T, Alsagheir A, Hussain K, Faden M, Aglan M, Alremeithi S, Habeb A.   +7 more
europepmc   +1 more source