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Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients.
Roscioli T, Elakis G, Cox TC, Moon DJ, Venselaar H, Turner AM, Le T, Hackett E, Haan E, Colley A, Mowat D, Worgan L, Kirk EP, Sachdev R, Thompson E, Gabbett M, McGaughran J, Gibson K, Gattas M, Freckmann ML, Dixon J, Hoefsloot L, Field M, Hackett A, Kamien B, Edwards M, Adès LC, Collins FA, Wilson MJ, Savarirayan R, Tan TY, Amor DJ, McGillivray G, White SM, Glass IA, David DJ, Anderson PJ, Gianoutsos M, Buckley MF. Roscioli T, et al. Am J Med Genet C Semin Med Genet. 2013 Nov;163C(4):259-70. doi: 10.1002/ajmg.c.31378. Epub 2013 Oct 11. Am J Med Genet C Semin Med Genet. 2013. PMID: 24127277
We also show a statistically significant association between splice site mutations in FGFR2 and a clinical diagnosis of Pfeiffer syndrome, more severe clinical phenotypes associated with FGFR2 exon 10 versus exon 8 mutations, and more frequent surgical procedures in the pr …
We also show a statistically significant association between splice site mutations in FGFR2 and a clinical diagnosis of Pfeiffer syndrome, m …
Long-term outcomes of web creep, scar quality, and function after simple syndactyly surgical treatment.
Lumenta DB, Kitzinger HB, Beck H, Frey M. Lumenta DB, et al. J Hand Surg Am. 2010 Aug;35(8):1323-9. doi: 10.1016/j.jhsa.2010.04.033. Epub 2010 Jul 16. J Hand Surg Am. 2010. PMID: 20638200
PURPOSE: Syndactyly is the second most common congenital malformation of the hand, and reports of the incidence of web creep after surgery vary. ...When choosing the groin as a donor area for full thickness skin grafts, we recommend harvesting from the lateral third of the …
PURPOSE: Syndactyly is the second most common congenital malformation of the hand, and reports of the incidence of web creep after su …
Central Coalition Osteotomy of Phalangeal Synostoses in the Management of the Type III Apert Hand.
Theman TA, Upton J, Taghinia AH, Firriolo JM, Nuzzi LC, Labow BI. Theman TA, et al. J Hand Surg Am. 2018 Nov;43(11):1042.e1-1042.e8. doi: 10.1016/j.jhsa.2018.03.050. Epub 2018 Jun 8. J Hand Surg Am. 2018. PMID: 29891270
Medical records were reviewed for demographics, clinical presentation, operative findings, and postoperative outcomes. RESULTS: Twelve pediatric patients with type III hands underwent syndactyly release. Median patient age was 10.0, 15.8, and 29.6 months at o …
Medical records were reviewed for demographics, clinical presentation, operative findings, and postoperative outcomes. RESULTS: Twelve pedia …