Works matching Achondroplasia

Results: 1059

European Achondroplasia Forum guiding principles for the detection and management of foramen magnum stenosis.

Published in:

Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02795-2

By:

Irving, Melita;
AlSayed, Moeenaldeen;
Arundel, Paul;
Baujat, Geneviève;
Ben-Omran, Tawfeg;
Boero, Silvio;
Cormier-Daire, Valérie;
Fredwall, Svein;
Guillen-Navarro, Encarna;
Hoyer-Kuhn, Heike;
Kunkel, Philip;
Lampe, Christian;
Maghnie, Mohamad;
Mohnike, Klaus;
Mortier, Geert;
Sousa, Sérgio B.

Publication type:

Article

The first European consensus on principles of management for achondroplasia.

Published in:

2021

By:

Cormier-Daire, Valerie;
AlSayed, Moeenaldeen;
Ben-Omran, Tawfeg;
de Sousa, Sérgio Bernardo;
Boero, Silvio;
Fredwall, Svein O.;
Guillen-Navarro, Encarna;
Irving, Melita;
Lampe, Christian;
Maghnie, Mohamad;
Mortier, Geert;
Peijin, Zagorka;
Mohnike, Klaus

Publication type:

journal article

Craniofacial Manifestation and Orthosurgical Management of a Patient with Achondroplasia.

Published in:

Journal of Dental Research & Review, 2022, v. 9, n. 3, p. 261, doi. 10.4103/jdrr.jdrr_40_22

By:

Govindraj, Varun;
Datana, Sanjeev;
Sharma, Mohit;
Chauhan, Deepak

Publication type:

Article

Wydłużenie kości ramiennej z zastosowaniem dystraktów monolateralnych u chorych z achondroplazją.

Published in:

Pediatric Endocrinology, Diabetes & Metabolism, 2007, v. 13, n. 3, p. 121

By:

Shadi, Milud;
Koczewski, Pawel

Publication type:

Article

Growth in achondroplasia including stature, weight, weight-for-height and head circumference from CLARITY: achondroplasia natural history study-a multi-center retrospective cohort study of achondroplasia in the US.

Published in:

2021

By:

Hoover-Fong, Julie E.;
Schulze, Kerry J.;
Alade, Adekemi Y.;
Bober, Michael B.;
Gough, Ethan;
Hashmi, S. Shahrukh;
Hecht, Jacqueline T.;
Legare, Janet M.;
Little, Mary Ellen;
Modaff, Peggy;
Pauli, Richard M.;
Rodriguez-Buritica, David F.;
Serna, Maria E.;
Smid, Cory;
Liu, Chengxin;
McGready, John

Publication type:

journal article

Recommendations for management of infants and young children with achondroplasia: Does clinical practice align?

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03621-7

By:

Guillen-Navarro, Encarna;
AlSayed, Moeenaldeen;
Alves, Inês;
Ben-Omran, Tawfeg;
Boero, Silvio;
Cormier-Daire, Valérie;
Fauroux, Brigitte;
Fredwall, Svein;
Irving, Melita;
Kunkel, Philip;
Lampe, Christian;
Lausch, Ekkehart;
Maghnie, Mohamad;
Mohnike, Klaus;
Mortier, Geert;
Pejin, Zagorka;
Sessa, Marco;
Sousa, Sérgio B.

Publication type:

Article

Alteration of major venous drainage routes in a patient with achondroplasia after ventriculoperitoneal shunt placement.

Published in:

2024

By:

Rai, Yurie;
Ogiwara, Hideki

Publication type:

Case Study

Unravelling the pathogenesis of foramen magnum stenosis in patients with severe achondroplasia: a CT-based comparison with age-matched controls and FGFR3 craniosynostosis syndromes.

Published in:

Child's Nervous System, 2023, v. 39, n. 12, p. 3491, doi. 10.1007/s00381-023-06005-z

By:

Zhang, Catherine H.;
D'Arco, Felice;
Borghi, Alessandro;
Picariello, Stefania;
Cheung, Moira;
Irving, Melita;
Thompson, Dominic

Publication type:

Article

Spinal canal stenosis in children with achondroplasia: the role of augmentation laminoplasty—a 15-year single institution experience.

Published in:

Child's Nervous System, 2023, v. 39, n. 1, p. 229, doi. 10.1007/s00381-022-05566-9

By:

Afshari, Fardad T.;
Slator, Naomi;
Fayeye, Oluwafikayo;
Ramakrishnan, Piravin K.;
Solanki, Guirish A.

Publication type:

Article

Myasthenia gravis complicating the surgical management of achondroplasia: a case-based update.

Published in:

2022

By:

Afshari, Fardad T.;
Parida, Amitav;
Debenham, Phillip;
Solanki, Guirish A.

Publication type:

Case Study

Airways and craniofacial assessment in children affected by achondroplasia with and without sleep-disordered breathing: quantitative magnetic resonance study.

Published in:

Child's Nervous System, 2022, v. 38, n. 6, p. 1147, doi. 10.1007/s00381-022-05484-w

By:

Calandrelli, Rosalinda;
Pilato, Fabio;
D'Apolito, Gabriella;
Tenore, Lorenzo;
Onesimo, Roberta;
Leoni, Chiara;
Zampino, Giuseppe;
Colosimo, Cesare

Publication type:

Article

Endoscopic third ventriculostomy for hydrocephalus in a patient with achondroplasia: a case report and literature review.

Published in:

Child's Nervous System, 2021, v. 37, n. 12, p. 3907, doi. 10.1007/s00381-021-05129-4

By:

Shoda, Kenji;
Ohe, Naoyuki;
Sasai, Hideo;
Miyai, Masafumi;
Ohnishi, Hidenori;
Iwama, Toru

Publication type:

Article

Surgical treatment for cervicomedullary compression among infants with achondroplasia.

Published in:

Child's Nervous System, 2015, v. 31, n. 5, p. 743, doi. 10.1007/s00381-015-2624-7

By:

Shimony, Nir;
Ben-Sira, Liat;
Sivan, Yakov;
Constantini, Shlomi;
Roth, Jonathan

Publication type:

Article

Achondroplasia in children: correlation of ventriculomegaly, size of foramen magnum and jugular foramina, and emissary vein enlargement.

Published in:

Child's Nervous System, 2015, v. 31, n. 1, p. 129, doi. 10.1007/s00381-014-2559-4

By:

Bosemani, Thangamadhan;
Orman, Gunes;
Hergan, Benedikt;
Carson, Kathryn;
Huisman, Thierry;
Poretti, Andrea

Publication type:

Article

Assessing the impacts of having a child with achondroplasia on parent well-being.

Published in:

2021

By:

Pfeiffer, Kathryn M.;
Brod, Meryl;
Smith, Alden;
Gianettoni, Jill;
Viuff, Dorthe;
Ota, Sho;
Charlton, R. Will

Publication type:

journal article

Cross-cultural selection and validation of instruments to assess patient-reported outcomes in children and adolescents with achondroplasia.

Published in:

2019

By:

Bloemeke, Janika;
Sommer, Rachel;
Witt, Stefanie;
Bullinger, Monika;
Nordon, Clementine;
Badia, Francisco Javier;
González, Felipe Luna;
Leiva-Gea, Antonio;
Delgado Rufino, Francisco de Borja;
Mayoral-Cleries, Fermín;
Romero-Sanchiz, Pablo;
Clamagirand Saiz, Verónica;
Nogueira-Arjona, Raquel;
Mohnike, Klaus;
Quitmann, Julia

Publication type:

journal article

Experiences of children and adolescents living with achondroplasia and their caregivers.

Published in:

Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 4, p. 1, doi. 10.1002/mgg3.1891

By:

Shediac, Renée;
Moshkovich, Olga;
Gerould, Heather;
Ballinger, Rachel;
Williams, Agnes;
Bellenger, M. Alex;
Quinn, Jennifer;
Hoover‐Fong, Julie;
Mohnike, Klaus;
Savarirayan, Ravi;
Kelly, Dominique

Publication type:

Article

Optimal non-invasive diagnosis of fetal achondroplasia combining ultrasonography with circulating cell-free fetal DNA analysis.

Published in:

2019

By:

Vivanti, A. J.;
Costa, J.‐M.;
Rosefort, A.;
Kleinfinger, P.;
Lohmann, L.;
Cordier, A.‐G.;
Benachi, A.;
Costa, J-M;
Cordier, A-G

Publication type:

journal article

Prenatal ultrasound and MRI findings of temporal and occipital lobe dysplasia in a twin with achondroplasia.

Published in:

Ultrasound in Obstetrics & Gynecology, 2014, v. 44, n. 3, p. 365, doi. 10.1002/uog.13359

By:

Pugash, D.;
Lehman, A. M.;
Langlois, S.

Publication type:

Article

Widening of the femoral proximal diaphysis-metaphysis angle in fetuses with achondroplasia.

Published in:

Ultrasound in Obstetrics & Gynecology, 2014, v. 44, n. 1, p. 69, doi. 10.1002/uog.13339

By:

Khalil, A.;
Morales‐Roselló, J.;
Morlando, M.;
Bhide, A.;
Papageorghiou, A.;
Thilaganathan, B.

Publication type:

Article

New aids for the non-invasive prenatal diagnosis of achondroplasia: dysmorphic features, charts of fetal size and molecular confirmation using cell-free fetal DNA in maternal plasma.

Published in:

Ultrasound in Obstetrics & Gynecology, 2011, v. 37, n. 3, p. 283, doi. 10.1002/uog.8893

By:

Chitty, L. S.;
Griffin, D. R.;
Meaney, C.;
Barrett, A.;
Khalil, A.;
Pajkrt, E.;
Cole, T. J.

Publication type:

Article

Growth references for height, weight, and head circumference for Argentine children with achondroplasia.

Published in:

2011

By:

Del Pino, Mariana;
Fano, Virginia;
Lejarraga, Horacio

Publication type:

journal article

Morphological and Mechanical Properties of the Human Patella Tendon in Adult Males With Achondroplasia.

Published in:

Frontiers in Physiology, 2018, p. 1, doi. 10.3389/fphys.2018.00867

By:

Sims, David T.;
Onambélé-Pearson, Gladys L.;
Burden, Adrian;
Payton, Carl;
Morse, Christopher I.

Publication type:

Article

Left Main Coronary Artery Bifurcation Coronary Intervention in a Patient with Achondroplasia with Multivessel Coronary Artery Disease.

Published in:

Indian Journal of Medical Specialities, 2022, v. 13, n. 3, p. 188, doi. 10.4103/injms.injms_144_21

By:

Das, Debasish;
Banerjee, Anindya;
Kumar, Abhinav;
Das, Tutan;
Singh, Shashikant;
Gupta, Jaideep Das;
Dixit, Manaranjan

Publication type:

Article

Subluxated cataractous lens and high myopia: An uncommon association in an achondroplasia child.

Published in:

2023

By:

Kishore, H.

Publication type:

Case Study

Achondroplasia and Macular Coloboma.

Published in:

2015

By:

Ahoor, M. H.;
Amizadeh, Y.;
Sorkhabi, R.

Publication type:

Case Study

Australian guidelines for the management of children with achondroplasia.

Published in:

Journal of Paediatrics & Child Health, 2023, v. 59, n. 2, p. 229, doi. 10.1111/jpc.16290

By:

Tofts, Louise J;
Armstrong, Jennifer A;
Broley, Stephanie;
Carroll, Theresa;
Ireland, Penelope J;
Koo, Minna;
Langdon, Katherine;
McGregor, Lesley;
McKenzie, Fiona;
Mehta, Divyesh;
Savarirayan, Ravi;
Tate, Tracy;
Wesley, Alison;
Zankl, Andreas;
Jenner, Maree;
Eyles, Marta;
Pacey, Verity

Publication type:

Article

The effect of height, weight and head circumference on gross motor development in achondroplasia.

Published in:

Journal of Paediatrics & Child Health, 2013, v. 49, n. 2, p. E122, doi. 10.1111/jpc.12078

By:

Ireland, Penelope Jane;
Ware, Robert S;
Donaghey, Samantha;
McGill, James;
Zankl, Andreas;
Pacey, Verity;
Ault, Jenny;
Savarirayan, Ravi;
Sillence, David;
Thompson, Elizabeth;
Townshend, Sharron;
Johnston, Leanne M

Publication type:

Article

Medical management of children with achondroplasia: Evaluation of an Australasian cohort aged 0-5 years.

Published in:

Journal of Paediatrics & Child Health, 2012, v. 48, n. 5, p. 443, doi. 10.1111/j.1440-1754.2011.02255.x

By:

Ireland, Penelope J;
Johnson, Sarah;
Donaghey, Samantha;
Johnston, Leanne;
Ware, Robert S;
Zankl, Andreas;
Pacey, Verity;
Ault, Jenny;
Savarirayan, Ravi;
Sillence, David;
Thompson, Elizabeth;
Townshend, Sharron;
McGill, James

Publication type:

Article

Achondroplasia: Etiology, Clinical Presentation, and Management.

Published in:

Neonatal Network, 2017, v. 36, n. 6, p. 337, doi. 10.1891/0730-0832.36.6.337

By:

Daugherty, Allyson

Publication type:

Article

FGFR3 gene mutation plus GRB10 gene duplication in a patient with achondroplasia plus growth delay with prenatal onset.

Published in:

2016

By:

Haiming Yuan;
Linhuan Huang;
Xizi Hu;
Qian Li;
Xiaofang Sun;
Yingjun Xie;
Shu Kong;
Xiaoman Wang;
Yuan, Haiming;
Huang, Linhuan;
Hu, Xizi;
Li, Qian;
Sun, Xiaofang;
Xie, Yingjun;
Kong, Shu;
Wang, Xiaoman

Publication type:

journal article

Achondroplasia with 47, xxy karyotype: a case report of the neonatal diagnosis of an extremely unusual association.

Published in:

BMC Pediatrics, 2012, v. 12, n. 1, p. 88, doi. 10.1186/1471-2431-12-88

By:

Ros-Pérez, Purificación;
Regidor, Francisco J.;
Colino, Esmeralda;
Martínez-Payo, Cristina;
Barroso, Eva;
Heath, Karen E.

Publication type:

Article

Achondroplasia and Cervicomedullary Compression: Prospective Evaluation and Surgical Treatment.

Published in:

Pediatric Neurosurgery, 1999, v. 31, n. 2, p. 78, doi. 10.1159/000028838

By:

Keiper Jr., Glenn L.;
Koch, Bernadette;
Crone, Kerry R.

Publication type:

Article

Cranio-cervical junction malformation causing cord compression in infant with achondroplasia: a bigger picture.

Published in:

British Journal of Neurosurgery, 2023, v. 37, n. 4, p. 886, doi. 10.1080/02688697.2019.1698009

By:

Caratella, S.;
Tarazi, M.;
Tomalieh, F. T.;
Spink, G.;
Bukhari, S. U. A.;
Ahmad, I. H.;
Hussain, M. M.

Publication type:

Article

Centrally mediated obstructive apnoea and restenosis of the foramen magnum in an infant with achondroplasia.

Published in:

British Journal of Neurosurgery, 2023, v. 37, n. 3, p. 409, doi. 10.1080/02688697.2020.1817315

By:

Cocca, Alessandra;
Thompson, Dominic;
Rahim, Zehan;
Irving, Melita;
Farquhar, Michael;
Santos, Rui;
Cheung, Moira S.

Publication type:

Article

Quality of Life in Children With Achondroplasia Undergoing Paired Limb Lengthening With an External Fixator and Modified Distraction Control: Observational Nonrandomized Study.

Published in:

JMIR Rehabilitation & Assistive Technologies, 2024, v. 11, p. 1, doi. 10.2196/49261

By:

Trofimchuk, Vitaliy;
Dossanov, Bolatbek;
Lozovoy, Vassiliy;
Khmyzov, Sergey;
Dossanova, Assem;
Angelov, Aleksandr;
Pashenko, Andrey;
Zhukenov, Olzhas

Publication type:

Article

Successful polar body-based preimplantation genetic diagnosis for achondroplasia.

Published in:

Reproductive BioMedicine Online (Reproductive Healthcare Limited), 2008, v. 16, n. 2, p. 276, doi. 10.1016/S1472-6483(10)60586-X

By:

Altarescu, Gheona;
Renbaum, P.;
Brooks P., B.;
Margalioth, E. J.;
Chetrit, A. Ben;
Munter, G.;
Levy-Lahad, E.;
Eldar-Geva, T.

Publication type:

Article

Acute type A aortic dissection repair in an octogenarian with achondroplasia: a case report.

Published in:

2018

By:

Moriyama, Shuji;
Hara, Masahiko;
Kaneko, Yasushi

Publication type:

Case Study

Bilateral Ossiculoplasty in 1 Case of Achondroplasia.

Published in:

Korean Journal of Audiology, 2013, v. 17, n. 3, p. 142, doi. 10.7874/kja.2013.17.3.142

By:

Jongyoon Jung;
Chulwon Yang;
Sunkyu Lee;
June Choi

Publication type:

Article

Omental Infarction Associated with Rib Cage Anomaly in Achondroplasia: Report of a Rare Case.

Published in:

Journal of the Korean Society of Radiology, 2019, v. 80, n. 5, p. 992, doi. 10.3348/jksr.2019.80.5.992

By:

Tae Hyung Kim;
You Sung Kim

Publication type:

Article

Successful Delivery in a Woman With Achondroplasia: A Cases Report.

Published in:

Acta Medica Iranica, 2017, v. 55, n. 8, p. 536

By:

Shirazi, Mahbooheh;
Golshahi, Fateme;
Teimoory, Nastaran

Publication type:

Article

Limb Lengthening for Achondroplasia: Systematic Review and Meta-analysis.

Published in:

Egyptian Journal of Hospital Medicine, 2019, v. 74, n. 7, p. 1491

By:

Elbatrawy, Yasser Ali;
Abdelaziz, Ashraf Mohammed;
Zidan, Mohamed Ahmed Abdel-Meged

Publication type:

Article

Review of published 467 achondroplasia patients: clinical and mutational spectrum.

Published in:

Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03031-1

By:

Zhang, XinZhong;
Jiang, Shan;
Zhang, Rui;
Guo, Siyi;
Sheng, Qiqi;
Wang, Kaili;
Shan, Yuanyuan;
Liao, Lin;
Dong, Jianjun

Publication type:

Article

Growth patterns of young achondroplasia patients in Korea and predictability of neurosurgical procedures.

Published in:

Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02929-6

By:

Lee, Jong Seok;
Shim, Youngbo;
Cho, Tae-Joon;
Kim, Seung-Ki;
Ko, Jung Min;
Phi, Ji Hoon

Publication type:

Article

Real-world evidence in achondroplasia: considerations for a standardized data set.

Published in:

Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02755-w

By:

Alanay, Yasemin;
Mohnike, Klaus;
Nilsson, Ola;
Alves, Inês;
AlSayed, Moeenaldeen;
Appelman-Dijkstra, Natasha M.;
Baujat, Genevieve;
Ben-Omran, Tawfeg;
Breyer, Sandra;
Cormier-Daire, Valerie;
Gregersen, Pernille Axél;
Guillén-Navarro, Encarna;
Högler, Wolfgang;
Maghnie, Mohamad;
Mukherjee, Swati;
Cohen, Shelda;
Pimenta, Jeanne;
Selicorni, Angelo;
Semler, J. Oliver;
Sigaudy, Sabine

Publication type:

Article

Sustained hip flexion contracture after femoral lengthening in patients with achondroplasia.

Published in:

2018

By:

Song, Mi Hyun;
Lee, Tae-Jin;
Song, Jong Hyeop;
Song, Hae-Ryong

Publication type:

journal article

Rationale, design, and methods of a randomized, controlled, open-label clinical trial with open-label extension to investigate the safety of vosoritide in infants, and young children with achondroplasia at risk of requiring cervicomedullary decompression surgery

Published in:

Science Progress, 2021, p. 1, doi. 10.1177/00368504211003782

By:

Savarirayan, Ravi;
Irving, Melita;
Maixner, Wirginia;
Thompson, Dominic;
Offiah, Amaka C;
Connolly, Daniel JA;
Raghavan, Ashok;
Powell, James;
Kronhardt, Marcin;
Jeha, George;
Ghani, Sajda;
Fisheleva, Elena;
Day, Jonathan RS

Publication type:

Article

Pectoral nerve II block, transversus thoracic muscle plane block, and dexmedetomidine for breast surgery in a patient with achondroplasia: a case report.

Published in:

JA Clinical Reports, 2019, v. 5, n. 1, p. N.PAG, doi. 10.1186/s40981-019-0267-5

By:

Nakanishi, Toshiyuki;
Yoshimura, Manabu;
Toriumi, Takashi

Publication type:

Article

Unilateral Frontosphenoidal Craniosynostosis With Achondroplasia: A Case Report.

Published in:

Cleft Palate Craniofacial Journal, 2011, v. 48, n. 5, p. 631, doi. 10.1597/09-266

By:

Hubbard, Bradley A.;
Gorski, Jerome L.;
Muzaffar, Arshad R.

Publication type:

Article

ACHONDROPLASIA - THE MOST COMMON CAUSE OF SHORT STATURE. CASE REPORTS.

Published in:

Acta Medica Marisiensis, 2019, v. 65, p. 105

By:

Andreea-Georgiana, Caranica;
Daniela, Chelaru;
Oana, Catalina Mihaela;
Cristina-Ioana, Antochie;
Larisia, Mihai

Publication type:

Article