Results 101 to 110 of about 6,534 (202)

Growth velocity and biological variables during puberty in achondroplasia

, 2018
Background: Achondroplasia is the most common form of inherited disproportionate short stature. Cross-sectional design studies of height show that, during childhood, height standard deviation scores (SDS) declines steadily and reaches a
Paula Adamo, Virginia Fano, Mariana del Pino   +2 more
core   +1 more source

Lumbar Fusion in A Patient With Achondroplasia

, 2022
Introduction: Achondroplasia is the most common cause of short-limbed, disproportionate dwarfism. It is an autosomal dominant condition that is caused by variations in the FGFR3 gene, a fibroblast growth factor receptor.
Clark, William L., Mohiuddin, Amer, Sheel, Vasu, Ravindranath, Sapna   +3 more
core  

Development in children with achondroplasia: a prospective clinical cohort study

, 2012
AIM: Achondroplasia is characterized by delays in the development of communication andmotor skills. While previously reported developmental profiles exist across gross motor, fine motor, feeding, and communication skills, there has been no prospective ...
Savarirayan, Ravi, Zankl, A., Ware, R., Ware, Robert S., Johnston, Leanne M, Johnston, L., Sillence, D., Ireland, P., Savarirayan, R., McGill, James, Zankl, Andreas, Johnston, Leanne Marie, McGill, J., Ault, Jenny, Townshend, Sharron, Thompson, Elizabeth M., Sillence, David O., Townshend, S., Ware, Robert S, Thompson, Elizabeth, Ault, J., Pacey, Verity, McGill, James J., Ault, Jenny E., Pacey, V., Donaghey, S., Ireland, Penelope J, Thompson, E., Donaghey, Samantha, Sillence, David, Johnston, Leanne M., Ireland, Penelope J.   +31 more
core   +1 more source

ACHONDROPLASIA [PDF]

BMJ, 1910
openaire   +2 more sources

Epidemiology of achondroplasia: a population-based study in Europe

, 2019
Achondroplasia is a rare genetic disorder resulting in short-limb skeletal dysplasia. We present the largest European population-based epidemiological study to date using data provided by the European Surveillance of Congenital Anomalies (EUROCAT ...
WISNIEWSKA Katarzyna, RANKIN Judith, PIERINI Anna, RISSMANN Anke, O’MAHONY Mary, KURINCZUK Jennifer, BRAZ Paula, MULLANEY Carmel, COI Alessio, MOKOROA CAROLLO Olatz, BOBAN Ljubica, BARISIC Ingeborg, SANTORO Michele, NEVILLE Amanda, ADDOR Marie-Claude, GARNE Ester, BIANCHI Fabrizio, ALESSANDRI Jean-Luc, LANZONI Monica, LELONG Natalie, ROUGET Florence, LUYT Karen, GATT Miriam, SCHAUB Bruno, WELLESLEY Diana, BERGMAN Jorieke E.H., TUCKER David, ZYMAK-ZAKUTNIA Natalia, HAEUSLER Martin, CAVERO-CARBONELL Clara, PERTHUS Isabelle, KLUNGSOYR Kari, NELEN Vera   +32 more
core   +1 more source

Association of achondroplasia with sagittal synostosis and scaphocephaly in two patients, an underestimated condition?

, 2015
We report on two patients with an unusual combination of achondroplasia and surgically treated sagittal synostosis and scaphocephaly. The most common achondroplasia mutation, p.Gly380Arg in fibroblast growth factor receptor 3 (FGFR3), was detected in ...
Accogli, Andrea, Nuzzi, Daniele, Pietro Fiaschi, Marco Pavanello, Pavanello, Marco, Piatelli, Gianluca, Mattia Pacetti, Capra, Valeria, Maurizia Baldi, Fiaschi, Pietro, Allegri, Anna, Valeria Capra, Gianluca Piatelli, Maria Savina Severino, Pacetti, Mattia, Severino, Maria Savina, Baldi, Maurizia, Elisa Tassano, Tassano, Elisa, Anna Allegri, Daniele Nuzzi, Andrea Accogli   +21 more
core   +1 more source

Achondroplasia in female twins : surgical indications

, 2011
Although in literature achondroplasia has been described profusely, reports on achondroplastic twins are limited. We present two cases of monozygotic female twins with achondroplasia, who underwent limb-lengthening surgical procedure with external ...
Walter Albisetti, Fabio Verdoni, W. Albisetti, Leopoldo Pedretti, L. Pedretti, Omar De Bartolomeo, Antonio Memeo, F. Verdoni, O. de Bartolomeo, A. Memeo   +9 more
core   +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

Limb lengthening in achondroplasia: a cost-effectiveness analysis using a Markov model. [PDF]

Orphanet J Rare Dis
Roza Miguel PO, Leiva Gea A, Rabanal Rubio M, García-Rodríguez N, González Fidalgo E.   +4 more
europepmc   +1 more source

OS odontoideum in an achondroplastic adult - A case report and review. [PDF]

Surg Neurol Int
Mollahouseini R, Rahimizadeh A, Wiliamson W.   +2 more
europepmc   +1 more source