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Quoted phrase not found in phrase index: "Distal arthrogryposis type 10"
Page 1
Bone densities and bone geometry in children and adolescents with arthrogryposis.
Dahan-Oliel N, Collins J, Rauch D, Bukovy G, Hamdy R, Rauch F. Dahan-Oliel N, et al. Bone. 2020 Aug;137:115454. doi: 10.1016/j.bone.2020.115454. Epub 2020 May 25. Bone. 2020. PMID: 32464275
OBJECTIVE: To describe bone densitometry results using lumbar spine dual-energy X-ray absorptiometry and forearm peripheral quantitative computed tomography (pQCT) in children with arthrogryposis multiplex congenita (AMC). STUDY DESIGN: Prospective study. RESULTS: Lumbar s …
OBJECTIVE: To describe bone densitometry results using lumbar spine dual-energy X-ray absorptiometry and forearm peripheral quantitative com …
Distal Arthrogryposis type 5 in an Italian family due to an autosomal dominant gain-of-function mutation of the PIEZO2 gene.
Serra G, Antona V, Cannata C, Giuffrè M, Piro E, Schierz IAM, Corsello G. Serra G, et al. Ital J Pediatr. 2022 Jul 29;48(1):133. doi: 10.1186/s13052-022-01329-z. Ital J Pediatr. 2022. PMID: 35906671 Free PMC article.
Its incidence is about 1 in 3000 live births. AMC may be distinguished into amyoplasia, distal and syndromic arthrogryposis. Distal arthrogryposis (DA) predominantly affects hands and feet. It is currently divided into more than ten subtypes (DA1, DA2A …
Its incidence is about 1 in 3000 live births. AMC may be distinguished into amyoplasia, distal and syndromic arthrogryposis. …
Lethal respiratory course and additional features expand the phenotypic spectrum of PIEZO2-related distal arthrogryposis type 5.
Oliwa A, Hendson G, Longman C, Synnes A, Seath K, Barnicoat A, Hall JG, Patel MS. Oliwa A, et al. Am J Med Genet A. 2023 Feb;191(2):546-553. doi: 10.1002/ajmg.a.63019. Epub 2022 Nov 1. Am J Med Genet A. 2023. PMID: 36317804
Distal arthrogryposes (DA) are a group of conditions presenting with multiple congenital contractures in the distal joints. The 10 types of DA are distinguished by different extra-articular manifestations. ...
Distal arthrogryposes (DA) are a group of conditions presenting with multiple congenital contractures in the distal joi …
Novel mutations in TPM2 and PIEZO2 are responsible for distal arthrogryposis (DA) 2B and mild DA in two Chinese families.
Li S, You Y, Gao J, Mao B, Cao Y, Zhao X, Zhang X. Li S, et al. BMC Med Genet. 2018 Oct 3;19(1):179. doi: 10.1186/s12881-018-0692-8. BMC Med Genet. 2018. PMID: 30285720 Free PMC article.
BACKGROUND: Distal arthrogryposis (DA) is a group of clinically and genetically heterogeneous disorders that involve multiple congenital limb contractures and comprise at least 10 clinical subtypes. ...
BACKGROUND: Distal arthrogryposis (DA) is a group of clinically and genetically heterogeneous disorders that involve multiple …
Peripheral neuropathy in diabetes: it's not always what it looks like.
Maltese G, Tan SV, Bruno E, Brackenridge A, Thomas S. Maltese G, et al. Diabet Med. 2018 Oct;35(10):1457-1459. doi: 10.1111/dme.13701. Diabet Med. 2018. PMID: 29862581
BACKGROUND: Hereditary Neuropathy with liability to Pressure Palsies (HNPP) is an autosomal dominant neuropathy, associated with deletion of the Peripheral Myelin Protein-22 (PMP-22) gene, causing recurrent painless palsies with age of onset between 10 and 30 years old. On …
BACKGROUND: Hereditary Neuropathy with liability to Pressure Palsies (HNPP) is an autosomal dominant neuropathy, associated with deletion of …
Two novel mutations in myosin binding protein C slow causing distal arthrogryposis type 2 in two large Han Chinese families may suggest important functional role of immunoglobulin domain C2.
Li X, Zhong B, Han W, Zhao N, Liu W, Sui Y, Wang Y, Lu Y, Wang H, Li J, Jiang M. Li X, et al. PLoS One. 2015 Feb 13;10(2):e0117158. doi: 10.1371/journal.pone.0117158. eCollection 2015. PLoS One. 2015. PMID: 25679999 Free PMC article.
Distal arthrogryposes (DAs) are a group of disorders that mainly involve the distal parts of the limbs and at least ten different DAs have been described to date. ...Of these genes, mutations in the gene encoding myosin binding protein C slow MYBPC1 were rece …
Distal arthrogryposes (DAs) are a group of disorders that mainly involve the distal parts of the limbs and at least ten …
The One-Bone Forearm in Children: Surgical Technique and a Retrospective Review of Outcomes.
Clippinger BB, Plucknette BF, Soldado F, Turvey BR, Barrera-Ochoa S, Kozin SH, Zlotolow DA. Clippinger BB, et al. J Hand Surg Am. 2022 Feb;47(2):189.e1-189.e9. doi: 10.1016/j.jhsa.2021.04.009. Epub 2021 Jun 8. J Hand Surg Am. 2022. PMID: 34112543
Radiographic union was demonstrated in 32 (80%) of the one-bone forearms by 10 weeks, 39 (97.5%) by 16 weeks, and 40 (100%) by 24 weeks. One patient had peri-implant fractures prior to union. ...CONCLUSIONS: One-bone forearm performed with this technique allows reliable he …
Radiographic union was demonstrated in 32 (80%) of the one-bone forearms by 10 weeks, 39 (97.5%) by 16 weeks, and 40 (100%) by 24 wee …
Pulmonary disease is a component of distal arthrogryposis type 5.
Williams MS, Elliott CG, Bamshad MJ. Williams MS, et al. Am J Med Genet A. 2007 Apr 1;143A(7):752-6. doi: 10.1002/ajmg.a.31648. Am J Med Genet A. 2007. PMID: 17345626
We report on a three-generation family with distal arthrogryposis type 5 (DA5). The family has four affected members in three generations with an apparent autosomal dominant pattern of inheritance. Three affected individuals were examined. All have distal …
We report on a three-generation family with distal arthrogryposis type 5 (DA5). The family has four affected members in …
Complications incidence in the treatment of early onset scoliosis with growing spinal implants.
Greggi T, Lolli F, Di Silvestre M, Martikos K, Vommaro F, Maredi E, Giacomini S, Baioni A, Cioni A. Greggi T, et al. Stud Health Technol Inform. 2012;176:334-7. Stud Health Technol Inform. 2012. PMID: 22744523
The scoliosis was: idiopathic in 7 cases, congenital in 5, associated with congenital heart disease in 2, with syringomyelia and Arnold Chiari syndrome in 1, with neurofibromatosis type 1 (NF1) in 1, with Prader Willi syndrome in 1, with trisomy 8 in 1, with arthrogrypo …
The scoliosis was: idiopathic in 7 cases, congenital in 5, associated with congenital heart disease in 2, with syringomyelia and Arnold Chia …