Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1989 1
1994 1
1996 1
1997 1
2006 1
2011 1
2012 1
2016 2
2017 3
2018 3
2021 1
2022 1
2023 2
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

15 results

Results by year

Filters applied: . Clear all
Quoted phrase not found in phrase index: "VACTERL with hydrocephalus"
Page 1
Rhomboencephalosynapsis: Review of the Literature.
Fouda MA, Kim TY, Cohen AR. Fouda MA, et al. World Neurosurg. 2022 Mar;159:48-53. doi: 10.1016/j.wneu.2021.12.062. Epub 2021 Dec 22. World Neurosurg. 2022. PMID: 34954057 Review.
The most common associated findings with rhombencephalosynapsis include hydrocephalus, mesencephalosynapsis, holoprosencephaly, pontocerebellar hypoplasia, corpus callosum dysgenesis, and absence of septum pellucidum. Patients can be categorized into 4 groups: 1) rhombence …
The most common associated findings with rhombencephalosynapsis include hydrocephalus, mesencephalosynapsis, holoprosencephaly, ponto …
Genotype-phenotype and outcome associations in patients with Fanconi anemia: the National Cancer Institute cohort.
Altintas B, Giri N, McReynolds LJ, Best A, Alter BP. Altintas B, et al. Haematologica. 2023 Jan 1;108(1):69-82. doi: 10.3324/haematol.2021.279981. Haematologica. 2023. PMID: 35417938 Free PMC article.
Patients with variants in upstream complex pathway had less severe phenotype [lacked VACTERL-H (Vertebral, Anal, Cardiac, Trachea-esophageal fistula, Esophageal/duodenal atresia, Renal, Limb, Hydrocephalus) association and/or PHENOS (Pigmentation, small-Head, small- …
Patients with variants in upstream complex pathway had less severe phenotype [lacked VACTERL-H (Vertebral, Anal, Cardiac, Trachea-eso …
Congenital abnormalities associated with limb deficiency defects: a population study based on cases from the Hungarian Congenital Malformation Registry (1975-1984).
Evans JA, Vitez M, Czeizel A. Evans JA, et al. Am J Med Genet. 1994 Jan 1;49(1):52-66. doi: 10.1002/ajmg.1320490111. Am J Med Genet. 1994. PMID: 8172251 Review.
The commonest entities were amnion disruption sequence (16% of cases) and VACTERL association (8%). Both of these disorders showed unusual temporal distribution. ...Radial/tibial defects were associated with different patterns depending on whether the limb defects were uni …
The commonest entities were amnion disruption sequence (16% of cases) and VACTERL association (8%). Both of these disorders showed un …
Thinking of VACTERL-H? Rule out Fanconi Anemia according to PHENOS.
Alter BP, Giri N. Alter BP, et al. Am J Med Genet A. 2016 Jun;170(6):1520-4. doi: 10.1002/ajmg.a.37637. Epub 2016 Mar 30. Am J Med Genet A. 2016. PMID: 27028275
VACTERL-H association includes three of eight features: vertebral anomalies, anal atresia, congenital heart disease, tracheo-esophageal fistula, esophageal atresia, renal, limb anomalies, and hydrocephalus. ...We created the acronym PHENOS (Pigmentation, small Head, …
VACTERL-H association includes three of eight features: vertebral anomalies, anal atresia, congenital heart disease, tracheo-esophage …
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. ...We have identified FANCB mutations in a further four affected families. The …
X-linked VACTERL-hydrocephalus syndrome (X-linked VACTERL-H) is a rare disorder caused by mutations in the gene FANCB w …
Nonfamilial VACTERL-H Syndrome in a Dizygotic Twin: Prenatal Ultrasound and Postnatal 3D CT Findings.
Hong SY, Kim SJ, Park MH, Lee KA. Hong SY, et al. Medicina (Kaunas). 2023 Jul 28;59(8):1387. doi: 10.3390/medicina59081387. Medicina (Kaunas). 2023. PMID: 37629676 Free PMC article.
Patients with VACTERL and hydrocephalus appear to form a distinct group, both genetically and phenotypically, and their condition has been called VACTERL-H syndrome. Most cases of VACTERL-H have been reported postnatally, as VACTER-H syndrome is diffic …
Patients with VACTERL and hydrocephalus appear to form a distinct group, both genetically and phenotypically, and their condit …
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. ...Branchial arch defects have so far not been described as part of the VACTERL+H syndrome. This observation further supports that a variety of brain anomalies including …
In recent years hydrocephalus was observed in patients with apparent VACTERL association. ...Branchial arch defects have so fa …
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 hy …
We report 8 additional patients including a recurrence in a previously described family, review the literature, and provide some population- …
Genomic study of severe fetal anomalies and discovery of GREB1L mutations in renal agenesis.
Boissel S, Fallet-Bianco C, Chitayat D, Kremer V, Nassif C, Rypens F, Delrue MA, Dal Soglio D, Oligny LL, Patey N, Flori E, Cloutier M, Dyment D, Campeau P, Karalis A, Nizard S, Fraser WD, Audibert F, Lemyre E, Rouleau GA, Hamdan FF, Kibar Z, Michaud JL. Boissel S, et al. Genet Med. 2018 Jul;20(7):745-753. doi: 10.1038/gim.2017.173. Epub 2017 Oct 26. Genet Med. 2018. PMID: 29261186 Free article.
METHODS: We performed WES in 101 fetuses or stillborns who presented prenatally with severe anomalies, including renal a/dysgenesis, VACTERL association (vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula, renal anomalies, and limb abnormalities), …
METHODS: We performed WES in 101 fetuses or stillborns who presented prenatally with severe anomalies, including renal a/dysgenesis, VACT …
15 results