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Items: 13

Select item 95450741.

Biallelic KIF24 Variants Are Responsible for a Spectrum of Skeletal Disorders Ranging From Lethal Skeletal Ciliopathy to Severe Acromesomelic Dysplasia

Madeline Louise Reilly, Noor ul Ain, Mari Muurinen, Alice Tata, Céline Huber, Marleen Simon, Tayyaba Ishaq, Nick Shaw, Salla Rusanen, Minna Pekkinen, Wolfgang Högler, Maarten F. C. M. Knapen, Myrthe van den Born, Sophie Saunier, Sadaf Naz, Valérie Cormier‐Daire, Alexandre Benmerah, Outi Makitie

J Bone Miner Res. 2022 Sep; 37(9): 1642–1652. Published online 2022 Jul 19. doi: 10.1002/jbmr.4639

PMCID:: PMC9545074

Abstract Article PDF–9.1M

Select item 67005602.

Metaphyseal dysplasia, Spahr type: a mimicker of rickets

Muthuvel Balasubramaniyan, Anupriya Kaur, Anindita Sinha, Nirmal Raj Gopinathan

BMJ Case Rep. 2019; 12(8): e230257. Published online 2019 Aug 13. doi: 10.1136/bcr-2019-230257

PMCID:: PMC6700560

Abstract Article PDF–978K

Select item 17349963.

Homozygosity mapping of a Dyggve-Melchior-Clausen syndrome gene to chromosome 18q21.1

C Thauvin-Robinet, V El Ghouzzi, W Chemaitilly, N Dagoneau, O Boute, G Viot, A Megarbane, A Sefiani, A Munnich, M Le Merrer, V Cormier-Daire

J Med Genet. 2002 Oct; 39(10): 714–717. doi: 10.1136/jmg.39.10.714

PMCID:: PMC1734996

Summary PDF–290K

Select item 17342994.

A new lethal syndrome of exomphalos, short limbs, and macrogonadism

L. Faivre, A. Delezoide, F. Narcy, F. Razavi, R. Bouvier, V. Cormier-Daire, M. Briard, S. Lyonnet, M. Vekemans, A. Munnich, M. Le Merrer

J Med Genet. 1999 Feb; 36(2): 131–136.

PMCID:: PMC1734299

Summary PDF–216K

Select item 16833815.

Type II collagen defects in the chondrodysplasias. I. Spondyloepiphyseal dysplasias.

L W Murray, J Bautista, P L James, D L Rimoin

Am J Hum Genet. 1989 Jul; 45(1): 5–15.

PMCID:: PMC1683381

Summary Page Browse PDF–2.5M

Select item 101399006.

Multiple epiphyseal dysplasia tip 5: Case report a rare skeletal dysplasıa presenting with repetitive joint pain in children

Volkan Kizilkaya, Sami Engin, Ali Tunc, Alparslan Tonbul

Int J Surg Case Rep. 2023 May; 106: 108179. Published online 2023 Apr 12. doi: 10.1016/j.ijscr.2023.108179

PMCID:: PMC10139900

Abstract Article PDF–407K

Select item 99833967.

Metaphyseal Dysplasia, Spahr Type; A Case Report of Variable Expressivity in Non-Consanguineous Filipino Siblings

Kailash Panchapakesan, Brennan Roper, Kate Mowrey, Paul Hillman, Shiraz Younas

J Orthop Case Rep. 2022 Sep; 12(9): 20–25. Published online 2022 Sep. doi: 10.13107/jocr.2022.v12.i09.2998

PMCID:: PMC9983396

Abstract Article PDF–5.1M

Select item 93075388.

Rickets guidance: part I—diagnostic workup

Dieter Haffner, Maren Leifheit-Nestler, Andrea Grund, Dirk Schnabel

Pediatr Nephrol. 2022; 37(9): 2013–2036. Published online 2021 Dec 15. doi: 10.1007/s00467-021-05328-w

PMCID:: PMC9307538

Abstract Article PDF–4.9M

Select item 82091729.

Prenatal features and neonatal management of severe hyperparathyroidism caused by the heterozygous inactivating calcium-sensing receptor variant, Arg185Gln: A case report and review of the literature

Marion Aubert-Mucca, Charlotte Dubucs, Marion Groussolles, Julie Vial, Edouard Le Guillou, Valerie Porquet-Bordes, Eric Pasmant, Jean-Pierre Salles, Thomas Edouard

Bone Rep. 2021 Dec; 15: 101097. Published online 2021 Jun 9. doi: 10.1016/j.bonr.2021.101097

PMCID:: PMC8209172

Abstract Article PDF–1.0M

Select item 652809510.

A Venezuelan Case of Schmid-Type Metaphyseal Chondrodysplasia with a Novel Mutation in COL10A1

Francisco Cammarata-Scalisi, Uta Matysiak, Tanja Velten, Michele Callea, Dianora Araque, Colin E. Willoughby, Angela Galeotti, Andrea Avendaño

Mol Syndromol. 2019 May; 10(3): 167–170. Published online 2019 Feb 9. doi: 10.1159/000496553

PMCID:: PMC6528095

Abstract Article PDF–510K

Select item 523738811.

SPONASTRIME Dysplasia: Report of an 11-Year-Old Boy and Review of the Literature

Heather A. Cooper, James Crowe, Merlin G. Butler

Am J Med Genet. Author manuscript; available in PMC 2017 Jan 14.

Published in final edited form as: Am J Med Genet. 2000 May 1; 92(1): 33–39. doi: 10.1002/(sici)1096-8628(20000501)92:1<33::aid-ajmg6>3.0.co;2-u

PMCID:: PMC5237388

Abstract Article PDF–1.0M

Select item 284226412.

Effect of anakinra on arthropathy in CINCA/NOMID syndrome

Takako Miyamae, Yutaka Inaba, Gen Nishimura, Masako Kikuchi, Takayuki Kishi, Ryoki Hara, Utako Kaneko, Toshihiko Shinoki, Tomoyuki Imagawa, Shumpei Yokokta

Pediatr Rheumatol Online J. 2010; 8: 9. Published online 2010 Mar 16. doi: 10.1186/1546-0096-8-9