Hallux valgus interphalangeus and a novel mutation in HOXA13. Part of the broadening spectrum of Hand-Foot-Genital syndrome.

Abstract

When evaluating foot and hand malformations in children, the orthopaedic surgeon must always consider the possibility of a more serious underlying syndrome with other accompanying abnormalities of organogenesis. We report the case of a 13-year-old female with Hand-Foot-Genital syndrome presenting to our foot and ankle clinic with tarsal coalition and hallux valgus interphalangeus - an unusual variation on the previously reported hallux varus associated with the syndrome. She was subsequently found to have a novel mutation in the HOXA13 gene. To our knowledge, this is the first report of Hand-Foot-Genital syndrome in the orthopaedic literature.

• Authors: L Parker, J Mangwani, E Wakeling, D Singh
• Journal: Foot and ankle surgery : official journal of the European Society of Foot and Ankle Surgeons (Foot Ankle Surg) Vol. 17 Issue 2 Pg. e28-30 (Jun 2011) ISSN: 1460-9584 [Electronic] France
• PMID: 21549968 (Publication Type: Case Reports, Journal Article)
• Copyright: Copyright © 2010 European Foot and Ankle Society. Published by Elsevier Ltd. All rights reserved.

Chemical References

• Homeodomain Proteins
• homeobox protein HOXA13

Topics

• Adolescent
• Female
• Foot Deformities, Congenital (diagnostic imaging, genetics)
• Hallux Valgus (diagnostic imaging, genetics)
• Hand Deformities, Congenital (diagnostic imaging, genetics)
• Homeodomain Proteins (genetics)
• Humans
• Molecular Sequence Data
• Mutation, Missense
• Radiography
• Syndrome
• Urogenital Abnormalities (genetics)