VACTERL-H association
Last revised by Vincent Tatco on 27 Jul 2022
Citation, DOI, disclosures and article data
Citation:
Weerakkody Y, Tatco V, Jones J, VACTERL-H association. Reference article, Radiopaedia.org (Accessed on 19 Apr 2024) https://doi.org/10.53347/rID-13764
rID:
13764
Article created:
14 May 2011,
Yuranga Weerakkody ◉
Disclosures:
At the time the article was created Yuranga Weerakkody had no recorded disclosures.
View Yuranga Weerakkody's current disclosures
Last revised:
27 Jul 2022,
Vincent Tatco
Disclosures:
At the time the article was last revised Vincent Tatco had no recorded disclosures.
View Vincent Tatco's current disclosures
Revisions:
2 times, by
2 contributors -
see full revision history and disclosures
Systems:
Tags:
Synonyms:
- VACTERL-H
- VACTERL-H anomaly
The VACTERL-H association is a rare non-random association which bears the features of the standard VACTERL association with added fetal hydrocephalus.
Unlike the standard VACTERL association which is sporadic, the VACTERL-H is hereditary with both X-linked 3 and autosomal recessive 2 inheritance patterns being recognized.
It carries an extremely poor prognosis.
References
- 1. Aliefendioglu D, Bademci G, Keskil S et-al. VACTERL-H associated with central hypothyroidism: a case report. Genet. Couns. 2007;18 (3): 331-5. - Pubmed citation
- 2. Corsello G, Giuffrè L. VACTERL with hydrocephalus: a further case with probable autosomal recessive inheritance. Am. J. Med. Genet. 1994;49 (1): 137-8. doi:10.1002/ajmg.1320490133 - Pubmed citation
- 3. Lomas FE, Dahlstrom JE, Ford JH. VACTERL with hydrocephalus: family with X-linked VACTERL-H. Am. J. Med. Genet. 1998;76 (1): 74-8. Am. J. Med. Genet. (link) - Pubmed citation