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Quoted phrase not found in phrase index: "VACTERL with hydrocephalus"
Page 1
Sirenomelia: A Multi-systemic Polytopic Field Defect with Ongoing Controversies.
Boer LL, Morava E, Klein WM, Schepens-Franke AN, Oostra RJ. Boer LL, et al. Birth Defects Res. 2017 Jun 1;109(10):791-804. doi: 10.1002/bdr2.1049. Epub 2017 May 16. Birth Defects Res. 2017. PMID: 28509418 Review.
Sirenomelia can be part of a syndromic continuum, overlapping with other complex conditions including caudal dysgenesis and VATER/VACTERL/VACTERL-H associations, which could all be part of a heterogeneous spectrum, and originate from an early defect in blastogenesis …
Sirenomelia can be part of a syndromic continuum, overlapping with other complex conditions including caudal dysgenesis and VATER/VACTERL …
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 an …
X-linked VACTERL-hydrocephalus syndrome (X-linked VACTERL-H) is a rare disorder caused by mutations in the gene FANCB w …
VACTERL with hydrocephalus: spontaneous chromosome breakage and rearrangement in a family showing apparent sex-linked recessive inheritance.
Wang H, Hunter AG, Clifford B, McLaughlin M, Thompson D. Wang H, et al. Am J Med Genet. 1993 Aug 1;47(1):114-7. doi: 10.1002/ajmg.1320470124. Am J Med Genet. 1993. PMID: 8368240
The rate of spontaneous and mitomycin C induced chromosome breakage and sister chromatid exchange (SCE) was studied in three related cases diagnosed with VACTERL-H syndrome. There have been recent reports of sporadic patients with VACTERL-H in whom high rates of chr …
The rate of spontaneous and mitomycin C induced chromosome breakage and sister chromatid exchange (SCE) was studied in three related cases d …
Postnatally diagnosed agenesis of corpus callosum in fetuses.
Kitova TT, Kitov B, Milkov D, Gaigi S. Kitova TT, et al. Fetal Pediatr Pathol. 2014 Aug;33(4):239-43. doi: 10.3109/15513815.2014.915366. Epub 2014 May 16. Fetal Pediatr Pathol. 2014. PMID: 24833489
RESULTS: The associated abnormalities are hydrocephalus, cerebellar hypoplasia, agenesis of vermis cerebelli, polymicrogyria and lissencephaly. Sixteen of the cases (80%) are syndromic: Trisomy 13,18,21 (5,1,2 fetuses respectively) and Thanatophoric dysplasia, Fetal akines …
RESULTS: The associated abnormalities are hydrocephalus, cerebellar hypoplasia, agenesis of vermis cerebelli, polymicrogyria and liss …
A novel murine allele of Intraflagellar Transport Protein 172 causes a syndrome including VACTERL-like features with hydrocephalus.
Friedland-Little JM, Hoffmann AD, Ocbina PJ, Peterson MA, Bosman JD, Chen Y, Cheng SY, Anderson KV, Moskowitz IP. Friedland-Little JM, et al. Hum Mol Genet. 2011 Oct 1;20(19):3725-37. doi: 10.1093/hmg/ddr241. Epub 2011 Jun 8. Hum Mol Genet. 2011. PMID: 21653639 Free PMC article.
We identified atrioventricular canal 1 (avc1), a mouse mutation that caused VACTERL association with hydrocephalus, or VACTERL-H. We showed that avc1 is a hypomorphic mutation of intraflagellar transport protein 172 (Ift172), required for ciliogenesis and Hed …
We identified atrioventricular canal 1 (avc1), a mouse mutation that caused VACTERL association with hydrocephalus, or VACT …
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 anoma …
In recent years hydrocephalus was observed in patients with apparent VACTERL association. ...Branchial arch defects hav …
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. We have observed 3 patients in a 12-month period with hydrocephalus due to aqueductal …
VACTERL association with hydrocephalus is rarely reported, and is thought to be an autosomal recessive uniformly lethal disord …
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, targ …
Patients harboring X-linked FANCB pathogenic variants usually present with severe congenital malformations resembling VACTERL syndrom …
Hepatoblastoma in a 4-year-old girl with Fanconi anaemia.
Kopic S, Eirich K, Schuster B, Hanenberg H, Varon-Mateeva R, Rittinger O, Schimpl G, Schindler D, Jones N. Kopic S, et al. Acta Paediatr. 2011 May;100(5):780-3. doi: 10.1111/j.1651-2227.2010.02116.x. Epub 2011 Jan 12. Acta Paediatr. 2011. PMID: 21138478
CASE REPORT: Hepatoblastoma was diagnosed in a 4-year-old girl receiving growth hormone substitution therapy for short stature. Owing to multiple congenital malformations, VACTERL-H (vertebral, anal, cardiac, tracheal, renal and limb anomalies with hydrocephalus) as …
CASE REPORT: Hepatoblastoma was diagnosed in a 4-year-old girl receiving growth hormone substitution therapy for short stature. Owing to mul …