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Quoted phrase not found in phrase index: "Syndactyly type 8"
Page 1
Epidemiology of congenital upper limb anomalies in Korea: A nationwide population-based study.
Shin YH, Baek GH, Kim YJ, Kim MJ, Kim JK. Shin YH, et al. PLoS One. 2021 Mar 9;16(3):e0248105. doi: 10.1371/journal.pone.0248105. eCollection 2021. PLoS One. 2021. PMID: 33690710 Free PMC article.
This study aimed to analyze the epidemiology of congenital upper limb anomalies (CULA) in Korea. We evaluated the incidence of each type of CULA, the presence of coexisting anomalies and the surgical treatment status in CULA patients. ...The mean annual incidence of CULA w …
This study aimed to analyze the epidemiology of congenital upper limb anomalies (CULA) in Korea. We evaluated the incidence of each type …
Clinicogenetic study of Turkish patients with syndromic craniosynostosis and literature review.
Nur BG, Pehlivanoğlu S, Mıhçı E, Calışkan M, Demir D, Alper OM, Kayserili H, Lüleci G. Nur BG, et al. Pediatr Neurol. 2014 May;50(5):482-90. doi: 10.1016/j.pediatrneurol.2014.01.023. Epub 2014 Jan 11. Pediatr Neurol. 2014. PMID: 24656465 Review.
Because this is the first molecular genetic report from a Turkish cohort, the identified spectrum profile of FGFR2 mutations of the syndromic craniosynostotic patients would be very helpful for understanding the genotype-phenotype relationship and has a great value for diagnosis, …
Because this is the first molecular genetic report from a Turkish cohort, the identified spectrum profile of FGFR2 mutations of the syndromi …
Five- and 10-Year Follow-Up of Nonvascularized Toe Phalanx Transfers.
Kawabata H, Tamura D. Kawabata H, et al. J Hand Surg Am. 2018 May;43(5):485.e1-485.e5. doi: 10.1016/j.jhsa.2017.10.034. Epub 2017 Dec 6. J Hand Surg Am. 2018. PMID: 29223628
The transferred toe phalanges grew at a near-normal rate in the first 5 years, but the growth rate decreased between 5 and 10 years. TYPE OF STUDY/LEVEL OF EVIDENCE: Therapeutic IV....
The transferred toe phalanges grew at a near-normal rate in the first 5 years, but the growth rate decreased between 5 and 10 years. TYPE …
Postaxial polydactyly of the hand in Japanese patients: Case series reports.
Ishigaki T, Akita S, Suzuki H, Udagawa A, Mitsukawa N. Ishigaki T, et al. J Plast Reconstr Aesthet Surg. 2019 Jul;72(7):1170-1177. doi: 10.1016/j.bjps.2019.02.030. Epub 2019 Mar 2. J Plast Reconstr Aesthet Surg. 2019. PMID: 30898504
RESULTS: A total of 19 male and 11 female patients were treated in our hospital, and bilateral and unilateral involvements (right side: 4 patients; left side: 4 patients) were observed in 22 and 8 patients, respectively. Moreover, 22 postaxial polydactylies were type A and …
RESULTS: A total of 19 male and 11 female patients were treated in our hospital, and bilateral and unilateral involvements (right side: 4 pa …
Preoperative electrocardiograms for nonsyndromic children with hand syndactyly.
Nuzzi LC, Pike CM, Lewine EB, Cerrato FE, Alexander ME, Ferrari LR, Bae DS, Taghinia A, Waters PM, Labow BI. Nuzzi LC, et al. J Hand Surg Am. 2015 Mar;40(3):452-5. doi: 10.1016/j.jhsa.2014.10.053. Epub 2014 Dec 24. J Hand Surg Am. 2015. PMID: 25542431
The mean patient charge for EKG and interpretation was calculated. RESULTS: We identified 128 syndactyly patients, 72% of which were boys. Median age at the time of EKG testing and syndactyly release was 1 year. ...Our study does not support routine EKG testing for …
The mean patient charge for EKG and interpretation was calculated. RESULTS: We identified 128 syndactyly patients, 72% of which were …
Variant type and position predict two distinct limb phenotypes in patients with GLI3-mediated polydactyly syndromes.
Baas M, Burger EB, van den Ouweland AM, Hovius SE, de Klein A, van Nieuwenhoven CA, Galjaard RJH. Baas M, et al. J Med Genet. 2021 Jun;58(6):362-368. doi: 10.1136/jmedgenet-2020-106948. Epub 2020 Jun 26. J Med Genet. 2021. PMID: 32591344 Free PMC article.
INTRODUCTION: Pathogenic DNA variants in the GLI-Kruppel family member 3 (GLI3) gene are known to cause multiple syndromes: for example, Greig syndrome, preaxial polydactyly-type 4 (PPD4) and Pallister-Hall syndrome. Out of these, Pallister-Hall is a different entity, but …
INTRODUCTION: Pathogenic DNA variants in the GLI-Kruppel family member 3 (GLI3) gene are known to cause multiple syndromes: for example, Gre …
High Prevalence of Late-Appearing T-Wave in Patients With Long QT Syndrome Type 8.
Fukuyama M, Ohno S, Ozawa J, Kato K, Makiyama T, Nakagawa Y, Horie M. Fukuyama M, et al. Circ J. 2020 Mar 25;84(4):559-568. doi: 10.1253/circj.CJ-19-1101. Epub 2020 Mar 12. Circ J. 2020. PMID: 32161207 Free article.
BACKGROUND: Long QT syndrome type 8 (LQT8) is a rare genotype of long QT syndrome. Late-appearing T-waves (LaT) are often documented in patients with LQT8, as in long QT syndrome type 3 (LQT3); however, the frequency of LaT and its relevance to the clinical severity …
BACKGROUND: Long QT syndrome type 8 (LQT8) is a rare genotype of long QT syndrome. Late-appearing T-waves (LaT) are often documented …
Long QT syndrome type 8: novel CACNA1C mutations causing QT prolongation and variant phenotypes.
Fukuyama M, Wang Q, Kato K, Ohno S, Ding WG, Toyoda F, Itoh H, Kimura H, Makiyama T, Ito M, Matsuura H, Horie M. Fukuyama M, et al. Europace. 2014 Dec;16(12):1828-37. doi: 10.1093/europace/euu063. Epub 2014 Apr 12. Europace. 2014. PMID: 24728418
AIMS: CACNA1C mutations have been reported to cause LQTS type 8 (LQT8; Timothy syndrome), which exhibits severe phenotypes, although the frequency of patients with LQT8 exhibiting only QT prolongation is unknown. ...Biophysical assay of CACNA1C mutations revealed that the …
AIMS: CACNA1C mutations have been reported to cause LQTS type 8 (LQT8; Timothy syndrome), which exhibits severe phenotypes, although …
The pattern of skeletal anomalies in the cervical spine, hands and feet in patients with Saethre-Chotzen syndrome and Muenke-type mutation.
Trusen A, Beissert M, Collmann H, Darge K. Trusen A, et al. Pediatr Radiol. 2003 Mar;33(3):168-72. doi: 10.1007/s00247-002-0823-3. Epub 2002 Nov 12. Pediatr Radiol. 2003. PMID: 12612814
BACKGROUND: Saethre-Chotzen syndrome (SCS) and Muenke-type mutation (MTM) are complex syndromes with craniosynostosis and skeletal anomalies including syndactyly, carpal and tarsal fusions, and cervical spine abnormalities. ...RESULTS: In the hands and feet, a varie …
BACKGROUND: Saethre-Chotzen syndrome (SCS) and Muenke-type mutation (MTM) are complex syndromes with craniosynostosis and skeletal an …
Surgical Outcomes and Predictive Factors of Medial Toe Excision for Polysyndactyly of the Fifth Toe.
Ko KR, Shim JS, Kang J, Park J. Ko KR, et al. Foot Ankle Int. 2021 May;42(5):562-569. doi: 10.1177/1071100720971289. Epub 2020 Nov 16. Foot Ankle Int. 2021. PMID: 33198478
BACKGROUND: We aimed to report surgical outcomes and analyze prognostic factors of medial toe excision for polysyndactyly of the fifth toe. ...RESULTS: At the last follow-up, a relatively small size of the reconstructed toe was observed in 19 feet (19/90, 21.1%). Proximal …
BACKGROUND: We aimed to report surgical outcomes and analyze prognostic factors of medial toe excision for polysyndactyly of the fift …
28 results