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Phenotypic diversity of patients diagnosed with VACTERL association.
Husain M, Dutra-Clarke M, Lemieux B, Wencel M, Solomon BD, Kimonis V. Husain M, et al. Am J Med Genet A. 2018 Sep;176(9):1830-1837. doi: 10.1002/ajmg.a.40363. Epub 2018 Aug 27. Am J Med Genet A. 2018. PMID: 30152190
The combination of vertebral, anal, cardiac, tracheo-esophageal, renal and limb anomalies termed VACTERL association, also referred to as VATER, has been used as a clinical descriptor and more recently, a diagnosis of exclusion, for a specific group of phenotypic manifestations t …
The combination of vertebral, anal, cardiac, tracheo-esophageal, renal and limb anomalies termed VACTERL association, also referred to as VA …
Inheritance of the VATER/VACTERL association.
Bartels E, Jenetzky E, Solomon BD, Ludwig M, Schmiedeke E, Grasshoff-Derr S, Schmidt D, Märzheuser S, Hosie S, Weih S, Holland-Cunz S, Palta M, Leonhardt J, Schäfer M, Kujath C, Rissmann A, Nöthen MM, Reutter H, Zwink N. Bartels E, et al. Pediatr Surg Int. 2012 Jul;28(7):681-5. doi: 10.1007/s00383-012-3100-z. Epub 2012 May 12. Pediatr Surg Int. 2012. PMID: 22581124 Free PMC article.
VATER/VACTERL association refers to the non-random co-occurrence of the following component features: vertebral defects, anal atresia, cardiac malformations, tracheoesophageal atresia, renal abnormalities, and limb defects. Recently, Solomon et al. (Hum Genet 127:731-733, 2010) …
VATER/VACTERL association refers to the non-random co-occurrence of the following component features: vertebral defects, anal atresia, cardi …
Targeted Resequencing of 29 Candidate Genes and Mouse Expression Studies Implicate ZIC3 and FOXF1 in Human VATER/VACTERL Association.
Hilger AC, Halbritter J, Pennimpede T, van der Ven A, Sarma G, Braun DA, Porath JD, Kohl S, Hwang DY, Dworschak GC, Hermann BG, Pavlova A, El-Maarri O, Nöthen MM, Ludwig M, Reutter H, Hildebrandt F. Hilger AC, et al. Hum Mutat. 2015 Dec;36(12):1150-4. doi: 10.1002/humu.22859. Epub 2015 Sep 14. Hum Mutat. 2015. PMID: 26294094 Free PMC article.
The VATER/VACTERL association describes the combination of congenital anomalies including vertebral defects, anorectal malformations, cardiac defects, tracheoesophageal fistula with or without esophageal atresia, renal malformations, and limb defects. As mutations in ciliary gene …
The VATER/VACTERL association describes the combination of congenital anomalies including vertebral defects, anorectal malformations, cardia …
Multidisciplinary approach to paediatric aerodigestive disorders: A single-centre longitudinal observational study.
Fuladi A, Suresh S, Thomas R, Wong M, Schilling S, Ee L, Choo K, Bourke C, McBride C, Masters BI, Kapur N. Fuladi A, et al. J Paediatr Child Health. 2020 Dec;56(12):1929-1932. doi: 10.1111/jpc.15090. Epub 2020 Sep 4. J Paediatr Child Health. 2020. PMID: 32886957
Vertebral Anal Tracheo Esophageal Renal Limb anomalies (VACTERL)/Vertebral Anal Tracheo Esophageal renal anomalies (VATER) association was seen in 21 (38%) children. Growth was adequate (median weight and body mass index z-score -0.63 and -0.48, respectively) …
Vertebral Anal Tracheo Esophageal Renal Limb anomalies (VACTERL)/Vertebral Anal Tracheo Esophageal renal anomalies (VATER) associa …
Another observation with VATER association and a complex IV respiratory chain deficiency.
Thauvin-Robinet C, Faivre L, Huet F, Journeau P, Glorion C, Rustin P, Rötig A, Munnich A, Cormier-Daire V. Thauvin-Robinet C, et al. Eur J Med Genet. 2006 Jan-Feb;49(1):71-7. doi: 10.1016/j.ejmg.2005.04.001. Eur J Med Genet. 2006. PMID: 16473312
The VATER association of vertebral anomalies (V), anal atresia (A), esophageal atresia and/or tracheo-esophageal fistula (TE), radial and renal anomalies (R) is a common congenital association of unknown origin with probably heterogeneous causes. ...The girl is now …
The VATER association of vertebral anomalies (V), anal atresia (A), esophageal atresia and/or tracheo-esophageal fistula (TE), …
Expanding the phenotypic spectrum of the Baller-Gerold syndrome.
Temtamy SA, Aglan MS, Nemat A, Eid M. Temtamy SA, et al. Genet Couns. 2003;14(3):299-312. Genet Couns. 2003. PMID: 14577674 Review.
Syndromes with associated preaxial reduction defects mainly Fanconi pancytopenia, VATER association, Rothmund-Thompson and Roberts phocomelia syndrome were excluded by proper clinical and cytogenetic studies. ...The presence of affected sibs the offspring of consang …
Syndromes with associated preaxial reduction defects mainly Fanconi pancytopenia, VATER association, Rothmund-Thompson and Rob …
Analysis of cardiac anomalies in VACTERL association.
Cunningham BK, Hadley DW, Hannoush H, Meltzer AC, Niforatos N, Pineda-Alvarez D, Sachdev V, Warren-Mora N, Solomon BD. Cunningham BK, et al. Birth Defects Res A Clin Mol Teratol. 2013 Dec;97(12):792-7. doi: 10.1002/bdra.23211. Birth Defects Res A Clin Mol Teratol. 2013. PMID: 24343877 Free PMC article.
BACKGROUND: Congenital heart disease (CHD) is estimated to affect between 3 and 5% of all newborns. Extra-cardiac malformations are observed in 7 to 50% of patients with CHD. One relatively well-known association that can occur in the context of CHD is VACTERL. Controversy …
BACKGROUND: Congenital heart disease (CHD) is estimated to affect between 3 and 5% of all newborns. Extra-cardiac malformations are obser …
Switched-on Sonic hedgehog: a gene whose activity extends beyond fetal development--to oncogenesis.
Arsić D, Beasley SW, Sullivan MJ. Arsić D, et al. J Paediatr Child Health. 2007 Jun;43(6):421-3. doi: 10.1111/j.1440-1754.2007.01104.x. J Paediatr Child Health. 2007. PMID: 17535169 Review.
Disruption of the Sonic hedgehog expression during critical periods of development is associated with developmental disorders of the brain, namely, holoprosencephaly, and the VATER association. Inappropriate activation of the pathway in post-embryonic development ha …
Disruption of the Sonic hedgehog expression during critical periods of development is associated with developmental disorders of the brain, …
Medical predictors of psychological anxieties in VATER patients.
Noeker M, Schmitz M, Schmiedeke E, Zwink N, Reutter H, Schmidt D, Jenetzky E. Noeker M, et al. Pediatr Surg Int. 2011 Oct;27(10):1079-83. doi: 10.1007/s00383-011-2953-x. Pediatr Surg Int. 2011. PMID: 21789667
BACKGROUND/PURPOSE: Following a recent classification of the VATER Association provided by the CURE-Net consortium (submitted), we investigate medical predictors of psychological stress and anxieties in this particular condition. ...DISCUSSION AND CONCLUSIONS …
BACKGROUND/PURPOSE: Following a recent classification of the VATER Association provided by the CURE-Net consortium (submitted) …
Heterozygous FGF8 mutations in patients presenting cryptorchidism and multiple VATER/VACTERL features without limb anomalies.
Zeidler C, Woelfle J, Draaken M, Mughal SS, Große G, Hilger AC, Dworschak GC, Boemers TM, Jenetzky E, Zwink N, Lacher M, Schmidt D, Schmiedeke E, Grasshoff-Derr S, Märzheuser S, Holland-Cunz S, Schäfer M, Bartels E, Keppler K, Palta M, Leonhardt J, Kujath C, Rißmann A, Nöthen MM, Reutter H, Ludwig M. Zeidler C, et al. Birth Defects Res A Clin Mol Teratol. 2014 Oct;100(10):750-9. doi: 10.1002/bdra.23278. Epub 2014 Aug 8. Birth Defects Res A Clin Mol Teratol. 2014. PMID: 25131394
Whereas the duplication mutation has not been reported before, p.Pro26Leu was once observed in a Kallmann syndrome patient. Both our patients had additional bilateral cryptorchidism, a key phenotypic feature in males with FGF8 associated Kallmann syndrome. ...CONCLUSION: O …
Whereas the duplication mutation has not been reported before, p.Pro26Leu was once observed in a Kallmann syndrome patient. Both our …
21 results