Results 101 to 110 of about 11,039 (220)

Prenatal diagnosis of achondroplasia in primary care settings – Recognising the soft markers: A case report [PDF]

Malaysian Family Physician
Achondroplasia, a genetic disorder causing limb shortening, is the most common form of disproportionate dwarfism. It can be diagnosed prenatally through sonographic findings and postnatally through clinical and radiological findings.
Wan Fadzleen Ezyani Mohd Fudzi, Lili Husniati Yaacob, Razlina Abdul Rahman, Chiew Chea Lau   +3 more
doaj   +1 more source

ACHONDROPLASIA DUE TO DNA INSERTION INTO THE TYPE II COLLAGEN GENE [PDF]

, 1984
Charles M. Strom
openalex   +1 more source

Cervical high-intensity intramedullary lesions in achondroplasia: Aetiology, prevalence and clinical relevance [PDF]

, 2012
Patrick A. Brouwer, Charlotte M. A. Lubout, J. Marc C. van Dijk, Carmen Vleggeert‐Lankamp   +3 more
openalex   +1 more source

High Lumbar Disc Herniation in Achondroplasia: A Case Report [PDF]

, 1994
Hyoung Min Kim, Youn Soo Kim, Moon Gu Choi, In Tak Chu, Young Kee Oh   +4 more
openalex   +1 more source

International Consensus Statement on the diagnosis, multidisciplinary management and lifelong care of individuals with achondroplasia

Nature Reviews Endocrinology, 2021
R. Savarirayan, P. Ireland, M. Irving, D. Thompson, Inês Alves, W. Baratela, J. Betts, M. Bober, S. Boero, Jenna W. Briddell, J. Campbell, Philippe M. Campeau, Patricia Carl-Innig, M. Cheung, M. Cobourne, V. Cormier-Daire, Muriel Deladure-Molla, M. del Pino, H. Elphick, V. Fano, B. Fauroux, J. Gibbins, M. Groves, L. Hagenäs, T. Hannon, J. Hoover-Fong, M. Kaisermann, Antonio Leiva-Gea, Juan Llerena, W. Mackenzie, K. Martin, F. Mazzoleni, S. McDonnell, M. Meazzini, J. Milerad, K. Mohnike, G. Mortier, A. Offiah, K. Ozono, J. Phillips, S. Powell, Yosha Prasad, C. Raggio, P. Rosselli, J. Rossiter, A. Selicorni, M. Sessa, M. Theroux, Matthew Thomas, Laura Trespedi, D. Tunkel, C. Wallis, M. Wright, N. Yasui, S. Fredwall   +54 more
semanticscholar   +1 more source

Total knee arthroplasty in a young patient with achondroplasia

, 2021
Hassan Zmerly, Marco Russo, Manuela Moscato, Ibrahim Akkawi   +3 more
openalex   +2 more sources

Achondroplasia Associated with Bilateral Keratoconus

Case Reports in Ophthalmological Medicine, 2012
We report a rare case of bilateral keratoconus in association with achondroplasia. A 26-year-old male, with a known case of achondroplasia, complained of bilateral gradual deterioration in vision for the past few years.
Ammar M. Al Mahmood, Hind M. Al Katan, Ghada Y. Al Bin Ali, Samar A. Al-Swailem   +3 more
doaj   +1 more source

Coronary artery surgery in a man with achondroplasia: a case report [PDF]

, 2010
Georgios Tagarakis, Dimos Karangelis, Andony J Baddour, Nicholas Desimonas, Angeliki Tsantsaridou, Marios E. Daskalopoulos, Dimitrios Papadopoulos, Nikolaos B Tsilimingas   +7 more
openalex   +1 more source

The Physical Basis Behind Achondroplasia, the Most Common Form of Human Dwarfism [PDF]

, 2010
Lijuan He, Kalina Hristova
openalex   +1 more source

The prevalence of thoracolumbar kyphosis in achondroplasia: A systematic review [PDF]

, 2011
Alexander C. Engberts, Wilco Jacobs, S.J.A.M. Castelijns, René M. Castelein, Carmen Vleggeert‐Lankamp   +4 more
openalex   +1 more source