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

Foot and Ankle Surgery

Volumn 17, Issue 2, 2011, Pages

  Parker, L ^a   Mangwani, J ^a   Wakeling, E ^b   Singh, D ^a  

^a ROYAL NATIONAL ORTHOPAEDIC HOSPITAL   (United Kingdom)

^b EALING HOSPITAL NHS TRUST   (United Kingdom)

Author keywords

Hallux valgus interphalangeus; Hand Foot Genital syndrome; HOXA13; Tarsal coalition

Indexed keywords

ADOLESCENT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; DIAGNOSTIC IMAGING; FEMALE; FOOT MALFORMATION; FOOT RADIOGRAPHY; GENE; GENE MUTATION; GENETIC COUNSELING; HALLUX VALGUS; HALLUX VARUS; HAND FOOT GENITAL SYNDROME; HAND MALFORMATION; HAND RADIOGRAPHY; HOXA13 GENE; HUMAN; MISSENSE MUTATION; PATIENT REFERRAL; PRIORITY JOURNAL;

ADOLESCENT; FEMALE; FOOT DEFORMITIES, CONGENITAL; HALLUX VALGUS; HAND DEFORMITIES, CONGENITAL; HOMEODOMAIN PROTEINS; HUMANS; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; SYNDROME; UROGENITAL ABNORMALITIES;

EID: 79955615589     PISSN: 12687731     EISSN: 14609584     Source Type: Journal    
DOI: 10.1016/j.fas.2010.12.003     Document Type: Article

References (7)

1. Stern A.M., Gall J.C., Perry B.L., Stimson C.W., Weitkamp L.R., Poznanski A.K. The hand-foot-uterus syndrome - a new hereditary disorder characterized by hand and foot dysplasia, dermatoglyphic abnormalities and partial duplication of the female genital tract. J Paediatr 1970, 77(1):109-116.
2. Giedion A, Prader A. Hand-foot-uterus (HFU) syndrome with hypospadias: the hand-foot-genital syndrome. Pediatr Radiol 1976, 4:96-102.
3. Poznanski A.K., Stern A.M., Gall J.C. Radiographic findings in the hand-foot-uterus syndrome (HFUS). Radiology 1970, 95:129.
4. Cleveland R.H., Holmes L.B. Hand-foot-genital syndrome: the importance of hallux varus. Pediatr Radiol 1990, 20:339-343.
5. Goodman F.R., Bacchelli C., Brady A.F., Brueton L.A., Fryns J.P., Mortlock D.P., et al. Novel HOXA13 mutations and the phenotypic spectrum of hand-foot-genital syndrome. American Journal of Human Genetics 2000, 67:197-202.
6. Goodman F.R., Scambler P.J. Human HOX gene mutations. Clin Genet 2001, 59:1-11.
7. Innis J.W., Goodman F.R., Bacchelli C., Williams T.M, Mortlock D.P., Sateesh P., et al. A HOXA13 allele with a missense mutation in the homeobox and a dinucleotide deletion in the promoter underlies Guttmacher syndrome. Hum Mutat 2002, 19:573-574.