title: 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.affiliation: Specialist Registrars in Orthopaedic Surgery, Royal National Orthopaedic Hospital, Brockley Hill, Stanmore, Middlesex, HA7 4LP, United Kingdom. lee.parker06@gmail.com
authors.forename: L
authors.initials: L
authors.lastname: Parker
authors.forename: J
authors.initials: J
authors.lastname: Mangwani
authors.forename: E
authors.initials: E
authors.lastname: Wakeling
authors.forename: D
authors.initials: D
authors.lastname: Singh
mesh_terms: D000293:Adolescent; D005260:Female; D005532:Foot Deformities, Congenital / Q000000981:diagnostic imaging / Q000235:genetics*; D006215:Hallux Valgus / Q000000981:diagnostic imaging / Q000235:genetics*; D006228:Hand Deformities, Congenital / Q000000981:diagnostic imaging / Q000235:genetics*; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D011859:Radiography; D013577:Syndrome; D014564:Urogenital Abnormalities / Q000235:genetics*
chemical_list: D018398:Homeodomain Proteins; C099959:homeobox protein HOXA13