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Select item 112986901.

SIADH as a Rare Complication of Foramen Magnum Stenosis in an Infant With Achondroplasia

Ayse Nurcan Cebeci, Steven Hebert, Heiko Reutter, Oliver Rompel, Joachim Woelfle

JCEM Case Rep. 2024 Aug; 2(8): luae144. Published online 2024 Aug 5. doi: 10.1210/jcemcr/luae144

PMCID:: PMC11298690

Abstract Article PDF–232K

Select item 65328442.

Foramen magnum stenosis and midface hypoplasia in C-type natriuretic peptide-deficient rats and restoration by the administration of human C-type natriuretic peptide with 53 amino acids

Takafumi Yotsumoto, Naomi Morozumi, Mayumi Furuya, Toshihito Fujii, Keisho Hirota, Yohei Ueda, Kazumasa Nakao, Shigeki Yamanaka, Kazunori Yoshikiyo, Sayaka Yoshida, Tomonari Nishimura, Yasuyuki Abe, Toshimasa Jindo, Hiroyuki Ogasawara, Akihiro Yasoda

PLoS One. 2019; 14(5): e0216340. Published online 2019 May 23. doi: 10.1371/journal.pone.0216340

PMCID:: PMC6532844

Abstract Article PDF–1.9M

Select item 110183643.

Sleep-Disordered Breathing in an Infant With Achondroplasia and Foramen Magnum Stenosis

Claire Feller, Egambaram Senthilvel

Cureus. 2024 Mar; 16(3): e56291. Published online 2024 Mar 16. doi: 10.7759/cureus.56291

PMCID:: PMC11018364

Abstract Article PDF–695K

Select item 103756944.

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

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

Orphanet J Rare Dis. 2023; 18: 219. Published online 2023 Jul 27. doi: 10.1186/s13023-023-02795-2

PMCID:: PMC10375694

Abstract Article PDF–1.2M

Select item 34482285.

An Achondroplasic Case with Foramen Magnum Stenosis, Hydrocephaly, Cortical Atrophy, Respiratory Failure and Sympathetic Dysfunction

Mustafa Ozcetin, Mehmet Tayip Arslan, Bulent Karapinar

Iran J Pediatr. 2012 Mar; 22(1): 121–124.

PMCID:: PMC3448228

Abstract Article PDF–502K

Select item 45087316.

Intraoperative Computed Tomography for Cervicomedullary Decompression of Foramen Magnum Stenosis in Achondroplasia: Two Case Reports

Hidetaka Arishima, Kenzo Tsunetoshi, Toshiaki Kodera, Ryuhei Kitai, Hiroaki Takeuchi, Ken-ichiro Kikuta

Neurol Med Chir (Tokyo) 2013 Dec; 53(12): 902–906. Published online 2013 Oct 21. doi: 10.2176/nmc.cr2012-0421

PMCID:: PMC4508731

Abstract Article PDF–1.2M

Select item 93896607.

Achondroplasia in Latin America: practical recommendations for the multidisciplinary care of pediatric patients

Juan Llerena, Jr, Chong Ae Kim, Virginia Fano, Pablo Rosselli, Paulo Ferrez Collett-Solberg, Paula Frassinetti Vasconcelos de Medeiros, Mariana del Pino, Débora Bertola, Charles Marques Lourenço, Denise Pontes Cavalcanti, Têmis Maria Félix, Antonio Rosa-Bellas, Norma Teresa Rossi, Fanny Cortes, Flávia Abreu, Nicolette Cavalcanti, Maria Cecilia Hervias Ruz, Wagner Baratela

BMC Pediatr. 2022; 22: 492. Published online 2022 Aug 19. doi: 10.1186/s12887-022-03505-w

PMCID:: PMC9389660

Abstract Article PDF–1.5M

Select item 54627938.

SNX10 gene mutation leading to osteopetrosis with dysfunctional osteoclasts

Eva-Lena Stattin, Petra Henning, Joakim Klar, Emma McDermott, Christina Stecksen-Blicks, Per-Erik Sandström, Therese G. Kellgren, Patrik Rydén, Göran Hallmans, Torsten Lönnerholm, Adam Ameur, Miep H. Helfrich, Fraser P. Coxon, Niklas Dahl, Johan Wikström, Ulf H. Lerner

Sci Rep. 2017; 7: 3012. Published online 2017 Jun 7. doi: 10.1038/s41598-017-02533-2

PMCID:: PMC5462793

Abstract Article PDF–5.1M

Select item 70571009.

Severe achondroplasia due to two de novo variants in the transmembrane domain of FGFR3 on the same allele: A case report

Tadashi Nagata, Masaki Matsushita, Kenichi Mishima, Yasunari Kamiya, Kohji Kato, Miho Toyama, Tomoo Ogi, Naoki Ishiguro, Hiroshi Kitoh

Mol Genet Genomic Med. 2020 Mar; 8(3): e1148. Published online 2020 Jan 23. doi: 10.1002/mgg3.1148

PMCID:: PMC7057100

Abstract Article PDF–701K

Select item 904498410.

软骨发育不全患儿的临床特征及FGFR3基因变异分析

张惠琴, 陶东英, 张静静, 牛焕红, 罗建峰, 成胜权

Zhongguo Dang Dai Er Ke Za Zhi. 2022 Apr 15; 24(4): 405–410. Chinese. doi: 10.7499/j.issn.1008-8830.2111039

PMCID:: PMC9044984

Abstract Article PDF–630K

Select item 985895511.

What to Expect of Feeding Abilities and Nutritional Aspects in Achondroplasia Patients: A Narrative Review

Elisabetta Sforza, Gaia Margiotta, Valentina Giorgio, Domenico Limongelli, Francesco Proli, Eliza Maria Kuczynska, Chiara Leoni, Cristina De Rose, Valentina Trevisan, Domenico Marco Romeo, Rosalinda Calandrelli, Eugenio De Corso, Luca Massimi, Osvaldo Palmacci, Donato Rigante, Giuseppe Zampino, Roberta Onesimo

Genes (Basel) 2023 Jan; 14(1): 199. Published online 2023 Jan 12. doi: 10.3390/genes14010199

PMCID:: PMC9858955

Abstract Article PDF–483K

Select item 263877212.

FGFR3 promotes synchondrosis closure and fusion of ossification centers through the MAPK pathway

Takehiko Matsushita, William R. Wilcox, Yuk Yu Chan, Aya Kawanami, Hülya Bükülmez, Gener Balmes, Pavel Krejci, Pertchoui B. Mekikian, Kazuyuki Otani, Isakichi Yamaura, Matthew L. Warman, David Givol, Shunichi Murakami

Hum Mol Genet. 2009 Jan 15; 18(2): 227–240. Published online 2008 Oct 15. doi: 10.1093/hmg/ddn339

PMCID:: PMC2638772

Abstract Article PDF–1.5M

Select item 964878213.

Circulatory C-type natriuretic peptide reduces mucopolysaccharidosis-associated craniofacial hypoplasia in vivo

Marina Kashiwagi, Kazumasa Nakao, Shigeki Yamanaka, Ichiro Yamauchi, Takafumi Yamashita, Toshihito Fujii, Yohei Ueda, Mariko Yamamoto Kawai, Takuma Watanabe, Shizuko Fukuhara, Kazuhisa Bessho

PLoS One. 2022; 17(11): e0277140. Published online 2022 Nov 10. doi: 10.1371/journal.pone.0277140

PMCID:: PMC9648782

Abstract Article PDF–3.4M

Select item 927111414.

The (extended) achondroplasia foramen magnum score has good observer reliability

Nathan Jenko, Daniel J. A. Connolly, Ashok Raghavan, James A. Fernandes, Shungu Ushewokunze, Heather E. Elphick, Paul Arundel, Utku Alhun, Amaka C. Offiah

Pediatr Radiol. 2022; 52(8): 1512–1520. Published online 2022 Apr 9. doi: 10.1007/s00247-022-05348-0

PMCID:: PMC9271114

Abstract Article PDF–1.3M

Select item 919540615.

Literature review and expert opinion on the impact of achondroplasia on medical complications and health-related quality of life and expectations for long-term impact of vosoritide: a modified Delphi study

Ravi Savarirayan, Wagner Baratela, Thomas Butt, Valérie Cormier-Daire, Melita Irving, Bradley S. Miller, Klaus Mohnike, Keiichi Ozono, Ron Rosenfeld, Angelo Selicorni, Dominic Thompson, Klane K. White, Michael Wright, Svein O. Fredwall

Orphanet J Rare Dis. 2022; 17: 224. Published online 2022 Jun 13. doi: 10.1186/s13023-022-02372-z

PMCID:: PMC9195406

Abstract Article PDF–839K

Select item 886198016.

Longitudinal Imaging of the Skull Base Synchondroses Demonstrate Prevention of a Premature Ossification After Recifercept Treatment in Mouse Model of Achondroplasia

Guylene Rignol, Stephanie Garcia, Florence Authier, Kaamula Smith, Lionel Tosello, Raphael Marsault, Pierre Dellugat, Diogo Goncalves, Marlene Brouillard, Jeffrey Stavenhagen, Luca Santarelli, Christian Czech, Elvire Gouze

JBMR Plus. 2022 Feb; 6(2): e10568. Published online 2021 Nov 9. doi: 10.1002/jbm4.10568