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Literature DB >> 1415330

VACTERL with hydrocephalus: one end of the Fanconi anemia spectrum of anomalies?

Abstract

Two cases of Fanconi anemia presenting as hydrocephalus are discussed. Both infants had initially been considered to have features of VACTERL. Chromosomal breakage studies should be performed in all cases of VACTERL with hydrocephalus so that Fanconi anemia may be excluded.

Entities: Disease Species

Mesh：

Year: 1992 PMID： 1415330 DOI： 10.1002/ajmg.1320430624

Source DB: PubMed Journal: Am J Med Genet ISSN： 0148-7299

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Cited

11 in total

Review 1. Townes-Brocks syndrome.

Authors: C M Powell; R C Michaelis
Journal: J Med Genet Date: 1999-02 Impact factor: 6.318

2. Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene.

Authors: L Van Maldergem; H A Siitonen; N Jalkh; E Chouery; M De Roy; V Delague; M Muenke; E W Jabs; J Cai; L L Wang; S E Plon; C Fourneau; M Kestilä; Y Gillerot; A Mégarbané; A Verloes
Journal: J Med Genet Date: 2005-06-17 Impact factor: 6.318

3. VACTERL-H syndrome: first trimester diagnosis.

Authors: Banu Dane; Zeynep Kayaoğlu; Cem Dane; Figen Aksoy
Journal: J Turk Ger Gynecol Assoc Date: 2011-12-01

4. Diagnosis of Fanconi anemia by diepoxybutane analysis.

Authors: Arleen D Auerbach
Journal: Curr Protoc Hum Genet Date: 2015-04-01

Review 5. VACTERL/VATER Association.

Authors: Benjamin D Solomon
Journal: Orphanet J Rare Dis Date: 2011-08-16 Impact factor: 4.123

VACTERL with hydrocephalus: one end of the Fanconi anemia spectrum of anomalies?

Review 1. Townes-Brocks syndrome.

2. Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene.

3. VACTERL-H syndrome: first trimester diagnosis.

4. Diagnosis of Fanconi anemia by diepoxybutane analysis.

Review 5. VACTERL/VATER Association.

6. Fanconi anaemia complementation group B presenting as X linked VACTERL with hydrocephalus syndrome.

7. Phenotypic Characteristics and Copy Number Variants in a Cohort of Colombian Patients with VACTERL Association.

8. Loss of Faap20 Causes Hematopoietic Stem and Progenitor Cell Depletion in Mice Under Genotoxic Stress.

Review 9. Infantile hydrocephalus: a review of epidemiology, classification and causes.

10. Oesophageal atresia, VACTERL association: Fanconi's anaemia related spectrum of anomalies.