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73 results

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Page 1
Pathogenic KDM5B variants in the context of developmental disorders.
Harrington J, Wheway G, Willaime-Morawek S, Gibson J, Walters ZS. Harrington J, et al. Biochim Biophys Acta Gene Regul Mech. 2022 Jul;1865(5):194848. doi: 10.1016/j.bbagrm.2022.194848. Epub 2022 Jul 26. Biochim Biophys Acta Gene Regul Mech. 2022. PMID: 35905858 Free article. Review.
Recessive variants in the gene encoding histone modifying enzyme KDM5B are associated with a DD characterized by developmental delay, facial dysmorphism and camptodactyly. KDM5B is responsible for the demethylation of lysine 4 on the amino tail of histone 3 and plays a vit …
Recessive variants in the gene encoding histone modifying enzyme KDM5B are associated with a DD characterized by developmental delay, facial …
Surgery and Conservative Management of Camptodactyly in Pediatric Patients: A Systematic Review.
Wang AMQ, Kim M, Ho ES, Davidge KM. Wang AMQ, et al. Hand (N Y). 2020 Nov;15(6):761-770. doi: 10.1177/1558944719834654. Epub 2019 Mar 22. Hand (N Y). 2020. PMID: 30897950 Free PMC article.
Camptodactyly is a pediatric hand condition, the treatment of which remains controversial. The authors' aim was to improve patient care through clarifying the definition of camptodactyly and indications for surgical and/or conservative management, summarizing outcom …
Camptodactyly is a pediatric hand condition, the treatment of which remains controversial. The authors' aim was to improve patient ca …
Surgical Treatment of Camptodactyly with Malek Cutaneous Approach and Stepwise Release: A Retrospective Multi-centre Study.
Corain M, Lando M, Pantaleoni F, Pozza P, Giardini M, Adani R. Corain M, et al. J Hand Surg Asian Pac Vol. 2022 Apr;27(2):233-241. doi: 10.1142/S2424835522500308. Epub 2022 Mar 31. J Hand Surg Asian Pac Vol. 2022. PMID: 35404199
Background: Clinical manifestations of camptodactyly are varied and no official consensus on the etiopathogenesis or best treatment is available. ...However, reported results of surgery are often unsatisfactory and it is difficult to compare outcomes as different classific …
Background: Clinical manifestations of camptodactyly are varied and no official consensus on the etiopathogenesis or best treatment i …
Blau syndrome: a case report from Palestine.
Iriqat S, Safieh MA, Fatouleh M, Alkaiyat A. Iriqat S, et al. Pediatr Rheumatol Online J. 2021 Aug 31;19(1):138. doi: 10.1186/s12969-021-00633-y. Pediatr Rheumatol Online J. 2021. PMID: 34465352 Free PMC article.
Initial examination at Saint John of Jerusalem Eye Hospital Group clinic showed bilateral intermediate uveitis with camptodactyly. The patient's sister (aged 19 years) had bilateral intermediate uveitis and camptodactyly. ...Father's left eye showed 360 degrees post …
Initial examination at Saint John of Jerusalem Eye Hospital Group clinic showed bilateral intermediate uveitis with camptodactyly. Th …
MET mutation causes muscular dysplasia and arthrogryposis.
Zhou H, Lian C, Wang T, Yang X, Xu C, Su D, Zheng S, Huang X, Liao Z, Zhou T, Qiu X, Chen Y, Gao B, Li Y, Wang X, You G, Fu Q, Gurnett C, Huang D, Su P. Zhou H, et al. EMBO Mol Med. 2019 Mar;11(3):e9709. doi: 10.15252/emmm.201809709. EMBO Mol Med. 2019. PMID: 30777867 Free PMC article.
We examined a four-generation arthrogryposis pedigree characterized by camptodactyly, limited forearm supination, and loss of myofibers in the forearms and hands. ...
We examined a four-generation arthrogryposis pedigree characterized by camptodactyly, limited forearm supination, and loss of myofibe …
Monogenic disorders as mimics of juvenile idiopathic arthritis.
Furness L, Riley P, Wright N, Banka S, Eyre S, Jackson A, Briggs TA. Furness L, et al. Pediatr Rheumatol Online J. 2022 Jun 18;20(1):44. doi: 10.1186/s12969-022-00700-y. Pediatr Rheumatol Online J. 2022. PMID: 35717242 Free PMC article.
All four patients shared the unifying features of presenting in early childhood and subsequently suffered with refractory disease, not amenable to usual standards of treatment. Multicentric Carpotarsal Osteolysis Syndrome and Camptodactyly-arthropathy-coxa vara-pericarditi …
All four patients shared the unifying features of presenting in early childhood and subsequently suffered with refractory disease, not amena …
Predictors of low bone density and fracture risk in Loeys-Dietz syndrome.
Guerrerio AL, Mateja A, Rasooly M, Levin S, Magnani A, Dempsey C, MacCarrick G, Dietz HC, Brittain E, Boyce AM, Frischmeyer-Guerrerio PA. Guerrerio AL, et al. Genet Med. 2022 Feb;24(2):419-429. doi: 10.1016/j.gim.2021.10.002. Epub 2021 Nov 30. Genet Med. 2022. PMID: 34906513 Free PMC article.
The count of 5 LDS-associated skeletal features (scoliosis, pes planus, arachnodactyly, spondylolisthesis, and camptodactyly) in patients with LDS was correlated with DXA Z-score. ...
The count of 5 LDS-associated skeletal features (scoliosis, pes planus, arachnodactyly, spondylolisthesis, and camptodactyly) in pati …
Early Results of Surgical Management of Camptodactyly.
Evans BT, Waters PM, Bae DS. Evans BT, et al. J Pediatr Orthop. 2017 Jul/Aug;37(5):e317-e320. doi: 10.1097/BPO.0000000000000967. J Pediatr Orthop. 2017. PMID: 28277466
BACKGROUND: We hypothesize that surgery for moderate-to-severe camptodactyly (>50 degrees) results in modest gains in range of motion and improved digital position. METHODS: A retrospective analysis of patients undergoing surgery for camptodactyly at a tertiary c …
BACKGROUND: We hypothesize that surgery for moderate-to-severe camptodactyly (>50 degrees) results in modest gains in range of mot …
Tomographic Study of the Malformation Complex in Correlation With the Genotype in Patients With Robinow Syndrome: Review Article.
Kaissi AA, Kenis V, Shboul M, Grill F, Ganger R, Kircher SG. Kaissi AA, et al. J Investig Med High Impact Case Rep. 2020 Jan-Dec;8:2324709620911771. doi: 10.1177/2324709620911771. J Investig Med High Impact Case Rep. 2020. PMID: 32172608 Free PMC article. Review.
Massive spinal malsegmentation and unsegmented spinal bar were noted in the AR group. In addition to severe mesomelia and camptodactyly, in the autosomal dominant (AD) group, no craniosynostosis but few Wormian bones and the spine showed limited malsegemetation, and no mes …
Massive spinal malsegmentation and unsegmented spinal bar were noted in the AR group. In addition to severe mesomelia and camptodactyly …
73 results