Results 91 to 100 of about 11,039 (220)

Sustained hip flexion contracture after femoral lengthening in patients with achondroplasia

BMC Musculoskeletal Disorders, 2018
Background Hip flexion contracture often occurs after femoral lengthening in patients with achondroplasia, but few studies have investigated its development in these patients.
Mi Hyun Song, Tae-Jin Lee, Jong Hyeop Song, Hae-Ryong Song   +3 more
doaj   +1 more source

P296: A rare combination: Novel presentation of achondroplasia with a complex chromosomal rearrangement [PDF]

, 2023
Travis Schreier, Joanna Spaulding, Bhavana J. Davé, Danita Velasco   +3 more
openalex   +1 more source

Lifetime Impact Study for Achondroplasia (LISA): Findings from an observational and multinational study focused on health-related quality of life in individuals with achondroplasia in Latin America

Genetics in Medicine Open
Purpose: The multisystem clinical manifestations and complications of achondroplasia, the most common form of disproportionate short stature, can cause functional impairment and psychosocial burden.
Juan Llerena, Jr, Pablo Rosselli, Amanda Aragão, Cristina Valenzuela, Debora Bertola, Yaneth Mendez, Mariana del Pino, Nicolette Calvacanti, Paula Thomazinho, Jeanne M. Pimenta, Shelda Cohen, Tom Butt, José C. Thomaz, Jr, Renée Shediac, Richard Rowell, Tatiana S.P.C. Magalhães, Chong Kim, Virginia Fano   +17 more
doaj   +1 more source

Achondroplasia [PDF]

BMJ, 1906
G, Rankin, E C, Mackay
openaire   +3 more sources

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

Molecular Confirmation of G1138A Mutation in FGFR gene in Achondroplasia

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

Achondroplasia in Turkey is defined by recurrent G380R mutation of the FGFR3 gene

The Turkish Journal of Pediatrics, 2003
Achondroplasia, the most common form of skeletal dysplasia in man, has autosomal dominant inheritance and causes severe dwarfism. More than 90% of patients with achondroplasia have a G to A transversion or G to C transversion at position 1138 of ...
Sacide Pehlivan, Ferda Ozkinay, Ozlem Okutman, Ozgür Coğulu, Ali Ozcan, Tufan Cankaya, Ayfer Ulgenalp   +6 more
doaj  

De novo achondroplasia causing four consecutive unsuccessful pregnancies: a case report

Journal of Medical Case Reports, 2012
Introduction The incidence of achondroplasia is very low, and the birth of two or more consecutive babies with achondroplasia to unaffected parents is a rarity. We report a rare case of recurrent achondroplasia in babies of unaffected parents.
Igwegbe Anthony, Eleje George, Ugwueke Ikechukwu   +2 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

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