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Quoted phrase not found in phrase index: "VACTERL with hydrocephalus"
Page 1
VACTERL/VATER Association.
Solomon BD. Solomon BD. Orphanet J Rare Dis. 2011 Aug 16;6:56. doi: 10.1186/1750-1172-6-56. Orphanet J Rare Dis. 2011. PMID: 21846383 Free PMC article. Review.
New genetic research methods offer promise that the causes of VACTERL association will be better defined in the relatively near future. ...Importantly, patients with VACTERL association do not tend to have neurocognitive impairment....
New genetic research methods offer promise that the causes of VACTERL association will be better defined in the relatively near futur …
VACTERL-H syndrome.
Herman TE, Siegel MJ. Herman TE, et al. J Perinatol. 2002 Sep;22(6):496-8. doi: 10.1038/sj.jp.7210765. J Perinatol. 2002. PMID: 12168129 No abstract available.
Rhombencephalosynapsis: a hindbrain malformation associated with incomplete separation of midbrain and forebrain, hydrocephalus and a broad spectrum of severity.
Ishak GE, Dempsey JC, Shaw DW, Tully H, Adam MP, Sanchez-Lara PA, Glass I, Rue TC, Millen KJ, Dobyns WB, Doherty D. Ishak GE, et al. Brain. 2012 May;135(Pt 5):1370-86. doi: 10.1093/brain/aws065. Epub 2012 Mar 26. Brain. 2012. PMID: 22451504 Free PMC article.
Rhombencephalosynapsis can also be seen in patients with features of vertebral anomalies, anal atresia, cardiovascular anomalies, trachea-oesophageal fistula, renal anomalies, limb defects (VACTERL) association. Based on a comprehensive evaluation of neuroimaging findings …
Rhombencephalosynapsis can also be seen in patients with features of vertebral anomalies, anal atresia, cardiovascular anomalies, trachea-oe …
X-linked VACTERL with hydrocephalus syndrome: further delineation of the phenotype caused by FANCB mutations.
McCauley J, Masand N, McGowan R, Rajagopalan S, Hunter A, Michaud JL, Gibson K, Robertson J, Vaz F, Abbs S, Holden ST. McCauley J, et al. Am J Med Genet A. 2011 Oct;155A(10):2370-80. doi: 10.1002/ajmg.a.33913. Epub 2011 Sep 9. Am J Med Genet A. 2011. PMID: 21910217
X-linked VACTERL-hydrocephalus syndrome (X-linked VACTERL-H) is a rare disorder caused by mutations in the gene FANCB which underlies Fanconi Anemia (FA) complementation group B. ...Each mutation is predicted to truncate the FANCB open reading frame and resul …
X-linked VACTERL-hydrocephalus syndrome (X-linked VACTERL-H) is a rare disorder caused by mutations in the gene FANCB which un …
VACTERL with hydrocephalus and branchial arch defects: prenatal, clinical, and autopsy findings in two brothers.
Froster UG, Wallner SJ, Reusche E, Schwinger E, Rehder H. Froster UG, et al. Am J Med Genet. 1996 Mar 15;62(2):169-72. doi: 10.1002/(SICI)1096-8628(19960315)62:2<169::AID-AJMG10>3.0.CO;2-M. Am J Med Genet. 1996. PMID: 8882398
In recent years hydrocephalus was observed in patients with apparent VACTERL association. This particular condition was recognized as a hereditary entity with poor prognosis. ...The use of the term VACTERL "association" for these conditions is misleading and …
In recent years hydrocephalus was observed in patients with apparent VACTERL association. This particular condition was recognized as …
VACTERL with hydrocephalus: further delineation of the syndrome(s).
Evans JA, Stranc LC, Kaplan P, Hunter AG. Evans JA, et al. Am J Med Genet. 1989 Oct;34(2):177-82. doi: 10.1002/ajmg.1320340209. Am J Med Genet. 1989. PMID: 2816994
We report 8 additional patients including a recurrence in a previously described family, review the literature, and provide some population-based data of VACTERL-type anomalies in hydrocephalus cases. VACTERL with hydrocephalus appears distinct from hydrolethalus an …
We report 8 additional patients including a recurrence in a previously described family, review the literature, and provide some population- …
VATER and hydrocephalus: distinct syndrome?
Iafolla AK, McConkie-Rosell A, Chen YT. Iafolla AK, et al. Am J Med Genet. 1991 Jan;38(1):46-51. doi: 10.1002/ajmg.1320380112. Am J Med Genet. 1991. PMID: 2012132
VACTERL association with hydrocephalus is rarely reported, and is thought to be an autosomal recessive uniformly lethal disorder distinct from the VATER association. ...Appropriate surgical treatment, including early ventriculoperitoneal shunting, allowed for the survival …
VACTERL association with hydrocephalus is rarely reported, and is thought to be an autosomal recessive uniformly lethal disorder dist …
VACTERL-H associated with central hypothyroidism: a case report.
Aliefendioglu D, Bademci G, Keskil S, Somuncu S, Misirlioglu E, Cakmak AM. Aliefendioglu D, et al. Genet Couns. 2007;18(3):331-5. Genet Couns. 2007. PMID: 18019375
The VACTERL-H syndrome is a rare combination of vertebral anomalies, anal atresia, congenital heart defects, tracheo-esophageal fistula, abnormalities of kidneys and limb anomalies together with hydrocephalus. ...The patient had no limb defects. The association of central …
The VACTERL-H syndrome is a rare combination of vertebral anomalies, anal atresia, congenital heart defects, tracheo-esophageal fistu …
Somatic mosaicism of an intragenic FANCB duplication in both fibroblast and peripheral blood cells observed in a Fanconi anemia patient leads to milder phenotype.
Asur RS, Kimble DC, Lach FP, Jung M, Donovan FX, Kamat A, Noonan RJ, Thomas JW, Park M, Chines P, Vlachos A, Auerbach AD, Smogorzewska A, Chandrasekharappa SC. Asur RS, et al. Mol Genet Genomic Med. 2018 Jan;6(1):77-91. doi: 10.1002/mgg3.350. Epub 2017 Nov 30. Mol Genet Genomic Med. 2018. PMID: 29193904 Free PMC article.
Patients harboring X-linked FANCB pathogenic variants usually present with severe congenital malformations resembling VACTERL syndrome with hydrocephalus. METHODS: We employed the diepoxybutane (DEB) test for FA diagnosis, arrayCGH for detection of duplication, targeted ca …
Patients harboring X-linked FANCB pathogenic variants usually present with severe congenital malformations resembling VACTERL syndrom …
Prenatal diagnosis of sirenomelia with bilateral hydrocephalus: report of a previously undocumented form of VACTERL-H association.
Onyeije CI, Sherer DM, Handwerker S, Shah L. Onyeije CI, et al. Am J Perinatol. 1998 Mar;15(3):193-7. doi: 10.1055/s-2007-993925. Am J Perinatol. 1998. PMID: 9572377
The VATER association is a combination of morphological defects including vertebral defects, anal atresia, tracheoesophageal fistula, esophageal atresia, radial and renal anomalies. The VACTERL-H association is a rare expanded form of the VATER association that includes ca …
The VATER association is a combination of morphological defects including vertebral defects, anal atresia, tracheoesophageal fistula, esopha …
11 results