Works matching DE "ACHONDROPLASIA"

Results: 548

Sinus venosus atrial septal defect closure in an achondroplastic dwarf: anesthetic and cardiopulmonary bypass management issues.

Published in:

2008

By:

Neema, Praveen Kumar;
Sethuraman, Manikandan;
Vijayakumar, Arun;
Rathod, Ramesh Chandra

Publication type:

Letter

Noninvasive ventilation in a child affected by achondroplasia respiratory difficulty syndrome.

Published in:

Pediatric Anesthesia, 2007, v. 17, n. 1, p. 75, doi. 10.1111/j.1460-9592.2006.02019.x

By:

OTTONELLO, GIANCARLO;
VILLA, GIOVANNA;
MOSCATELLI, ANDREA;
DIANA, MARIA CRISTINA;
PAVANELLO, MARCO

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

New insights in craniovertebral junction MR changes leading to stenosis in children with achondroplasia.

Published in:

Child's Nervous System, 2022, v. 38, n. 6, p. 1137, doi. 10.1007/s00381-022-05514-7

By:

Cabet, Sara;
Szathmari, Alexandru;
Mottolese, Carmine;
Franco, Patricia;
Guibaud, Laurent;
Rossi, Massimiliano;
Di Rocco, Federico

Publication type:

Article

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

Pathogenesis of hydrocephalus in achondroplastic dwarfs: a review and presentation of a case followed for 22 years.

Published in:

Child's Nervous System, 2019, v. 35, n. 8, p. 1295, doi. 10.1007/s00381-019-04227-8

By:

Rekate, Harold L.

Publication type:

Article

Polysomnography as an indicator for cervicomedullary decompression to treat foramen magnum stenosis in achondroplasia.

Published in:

Child's Nervous System, 2018, v. 34, n. 11, p. 2275, doi. 10.1007/s00381-018-3880-0

By:

Sano, Masakazu;
Oishi, Makoto;
Yoshimura, Junichi;
Fujii, Yukihiko;
Takahashi, Nao;
Nagasaki, Keisuke

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

Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia.

Published in:

Nature, 1994, v. 371, n. 6494, p. 252, doi. 10.1038/371252a0

By:

Rousseau, Francis;
Bonaventure, Jacky

Publication type:

Article

Facilitators and constraints of physical activity in adults with achondroplasia: a scoping review.

Published in:

Journal of Rare Diseases, 2024, v. 3, n. 1, p. 1, doi. 10.1007/s44162-024-00048-9

By:

Alves, Inês;
Koromani, Fjorda;
Lemos, Carolina;
Tavares, Sofia;
Fernandes, Orlando;
Pereira, Cidália D.;
Castro, Maria António;
Rivadeneira, Fernando

Publication type:

Article

Anesthetic Management of Achondroplastic Dwarf with Difficult Airway for Cadaveric Renal Transplantation: A Case Report.

Published in:

Archives of Anesthesiology & Critical Care, 2022, v. 8, p. 416

By:

Gökdemir, Begüm Nemika;
Çekmen, Nedim;
Zulfugarlı, Nazrin;
Torgay, Adnan

Publication type:

Article

How to provide a genetic counseling in a simple case of antenatal diagnosis of achondroplasia.

Published in:

Gineco.eu, 2016, v. 12, n. 2, p. 56, doi. 10.18643/gieu.2016.56

By:

Radoi, V.;
Bohiltea, R.;
Bohiltea, C.;
Carstoiu, M.;
Vladareanu, S.

Publication type:

Article

Unintended Messages: The Ethics of Teaching Genetic Dilemmas.

Published in:

Hastings Center Report, 2002, v. 32, n. 2, p. 37, doi. 10.2307/3528522

By:

GOODING, HOLLY C.;
WILFOND, BENJAMIN;
BOEHM, KARINA;
BIESECKER, BARBARA BOWLES

Publication type:

Article

Individualized Nasal Mask Fabrication for Positive Pressure Ventilation Using Dental Methods.

Published in:

International Journal of Prosthodontics, 2004, v. 17, n. 2, p. 247

By:

Limeres, Jacobo;
Diz, Pedro;
Vilaboa, Carlos;
Tomás, Inmaculada;
Feijoo, Javier F.

Publication type:

Article

Correction to: 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:

Correction Notice

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

An outbreak of congenital goiter and chondrodystrophy among calves born to spring-calving beef cows.

Published in:

Canadian Veterinary Journal / Revue Vétérinaire Canadienne, 2019, v. 60, n. 9, p. 981

By:

Homerosky, Elizabeth R.;
Johnsen, Megan;
Steinmann, Mei;
Matejka, Carling;
Jelinski, Michael J.

Publication type:

Article

Rapid Whole Genome Sequencing Uncovers a Triple Diagnosis: X‐Linked Chondrodysplasia Punctata, MECP2‐Related Disorder, and Mosaic Jacobs Syndrome.

Published in:

2025

By:

Samuels, Megan;
Shields, Kathleen;
Hillman, Paul;
Farach, Laura

Publication type:

Case Study

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

Identification of a novel COL10A1: c.1952 G>T variant in a family with Schmid metaphyseal chondrodysplasia and development of a noninvasive prenatal testing method.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 10, p. 1, doi. 10.1002/mgg3.1758

By:

Ye, Yanchou;
Li, Weihao;
Wang, Guan;
Zhan, Longsheng;
Lin, Junwei;
Li, Tian;
Zhang, Jun

Publication type:

Article

A new GNPAT variant of foetal rhizomelic chondrodysplasia punctata.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 8, p. 1, doi. 10.1002/mgg3.1733

By:

Cordisco, Adalgisa;
Pelo, Elisabetta;
Di Tommaso, Mariarosaria;
Biagiotti, Roberto

Publication type:

Article

Characterization of a novel COL10A1 variant associated with Schmid‐type metaphyseal chondrodysplasia and a literature review.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 5, p. 1, doi. 10.1002/mgg3.1668

By:

Wu, Huixiao;
Wang, Shuping;
Li, Guimei;
Yao, Yangyang;
Wang, Ning;
Sun, Xiaoqing;
Fang, Li;
Jiang, Xiuyun;
Zhao, Jiajun;
Wang, Yanzhou;
Xu, Chao

Publication type:

Article

Genetics and Genomic Medicine in Egypt: steady pace.

Published in:

Molecular Genetics & Genomic Medicine, 2017, v. 5, n. 1, p. 8, doi. 10.1002/mgg3.271

By:

Temtamy, Samia Ali;
Hussen, Dalia Farouk

Publication type:

Article

FGFR3 mutation frequency in 324 cases from the International Skeletal Dysplasia Registry.

Published in:

Molecular Genetics & Genomic Medicine, 2014, v. 2, n. 6, p. 497, doi. 10.1002/mgg3.96

By:

Xue, Yuan;
Sun, Angela;
Mekikian, P. Betty;
Martin, Jorge;
Rimoin, David L.;
Lachman, Ralph S.;
Wilcox, William R.

Publication type:

Article

Chondrodysplasia punctata (CDPX2) in a male caused by single‐gene mosaicism: A 20‐year follow‐up.

Published in:

2019

By:

Honigman, Anthony;
De Cruz, Ryan;
Sinclair, Rodney;
Winship, Ingrid

Publication type:

Case Study

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

P09.10: Prenatal diagnosis of achondroplasia in the second trimester of pregnancy using the biparietal diameter/femur length ratio.

Published in:

Ultrasound in Obstetrics & Gynecology, 2017, v. 50, p. 183, doi. 10.1002/uog.18090

By:

Veluppillai, C.;
Stirnemann, J.;
Djaafri, F.;
Bonniere, M.;
Attie Bitach, T.;
Sonigo, P.;
Ville, Y.

Publication type:

Article

EP07.03: A case of chondrodyplasia punctata in a lupic mother.

Published in:

Ultrasound in Obstetrics & Gynecology, 2017, v. 50, p. 290, doi. 10.1002/uog.18429

By:

Mathe, M.;
Delrue, M.;
Moramarco, V.;
Rypens, F.;
Wavrant, S.

Publication type:

Article

OC24.05: Is widening of the proximal femoral angle specific to achondroplasia?

Published in:

Ultrasound in Obstetrics & Gynecology, 2016, v. 48, p. 43, doi. 10.1002/uog.16144

By:

Khalil, A.;
De Catte, L.;
Elnamoury, M.M.;
Bhide, A.;
Papageorghiou, A.T.;
Thilaganathan, B.

Publication type:

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

OC04.02: Femoral metaphyseal-epiphyseal angle: a new prenatal ultrasound finding in achondroplasia.

Published in:

Ultrasound in Obstetrics & Gynecology, 2013, v. 42, p. 7, doi. 10.1002/uog.12598

By:

Khalil, A.;
D'Antonio, F.;
Bhide, A.;
Papageorghiou, A.T.;
Thilaganathan, B.

Publication type:

Article

Abnormal gyration of the temporal lobe and megalencephaly are typical features of thanatophoric dysplasia and can be visualized prenatally by ultrasound.

Published in:

Ultrasound in Obstetrics & Gynecology, 2012, v. 40, n. 2, p. 230, doi. 10.1002/uog.11127

By:

Blaas, H.-G. K.;
Vogt, C.;
Eik-Nes, S. H.

Publication type:

Article

P15.05: Prenatal diagnosis of achondroplasia with ultrasound, three-dimensional computed tomography and molecular methods.

Published in:

Ultrasound in Obstetrics & Gynecology, 2011, v. 38, p. 220, doi. 10.1002/uog.9802

By:

Hsieh, C. T.;
Yang, P.;
Liao, H.;
Yang, Y.

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

Prenatal diagnosis of fetal skeletal dysplasias by combining two-dimensional and three-dimensional ultrasound and intrauterine three-dimensional helical computer tomography.

Published in:

Ultrasound in Obstetrics & Gynecology, 2004, v. 24, n. 2, p. 134, doi. 10.1002/uog.1113

By:

Ruano, R.;
Molho, M.;
Roume, J.;
Ville, Y.

Publication type:

Article

Letters to the Editor.

Published in:

Ultrasound in Obstetrics & Gynecology, 2001, v. 18, n. 1, p. 81, doi. 10.1046/j.1469-0705.2001.00482.x

By:

Moeglin, D.;
Benoit, B.

Publication type:

Article

Prenatal sonographic diagnosis of type I achondrogenesis with a large cystic hygroma.

Published in:

Ultrasound in Obstetrics & Gynecology, 1999, v. 13, n. 1, p. 75

By:

Özeren, S.;
Yüksel, A.;
Tükel, T.

Publication type:

Article

Retracted: Prenatal Diagnosis of Concurrent Achondroplasia and Klinefelter Syndrome.

Published in:

2016

By:

Case Reports in Obstetrics and Gynecology

Publication type:

Correction Notice

Correction to: Review of patients with achondroplasia: a single-center's experience with follow-up and associated morbidities.

Published in:

2024

By:

Soğukpınar, Merve;
Demir, Gizem Ürel;
Utine, Gülen Eda;
Gönç, Elmas Nazlı;
Özön, Zeynep Alev;
Şimşek-Kiper, Pelin Özlem

Publication type:

Correction Notice

Final adult height in long-term growth hormone-treated achondroplasia patients.

Published in:

2017

By:

Harada, Daisuke;
Namba, Noriyuki;
Hanioka, Yuki;
Ueyama, Kaoru;
Sakamoto, Natsuko;
Nakano, Yukako;
Izui, Masafumi;
Nagamatsu, Yuiko;
Kashiwagi, Hiroko;
Yamamuro, Miho;
Ishiura, Yoshihito;
Seino, Yoshiki;
Ogitani, Ayako

Publication type:

journal 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

Disorders Transmitted Genetically: Common Clinical Entities I. Autosomal Dominant Disorders.

Published in:: Clinical Pediatrics, 1970, v. 9, n. S1, p. 255
Publication type:: Article

Achondroplasia: Clinical Radiologic Features with Comment on Genetic Implications.

Published in:

Clinical Pediatrics, 1968, v. 7, n. 8, p. 474, doi. 10.1177/000992286800700809

By:

Langer Jr., Leonard O.;
Baumann, Paul A.;
Gorlin, Robert J.

Publication type:

Article