Update on a family with hand-foot-genital syndrome: hypospadias and urinary tract abnormalities in two boys from the fourth generation
- PMID: 1442892
- DOI: 10.1002/ajmg.1320440419
Update on a family with hand-foot-genital syndrome: hypospadias and urinary tract abnormalities in two boys from the fourth generation
Abstract
We describe a fourth generation of involvement with hand-foot-genital syndrome. The first 3 generations of this family, which included 5 affected females and no affected males, were reported previously by Verp et al. [1983]. In the fourth generation, 2 affected males are identified. To our knowledge, the findings of bilateral vesicoureteral reflux in one boy and bilateral ureteropelvic junction obstruction in his cousin represent the first reports of urinary tract abnormalities in males with this syndrome.
Similar articles
-
Mutation of HOXA13 in hand-foot-genital syndrome.Nat Genet. 1997 Feb;15(2):179-80. doi: 10.1038/ng0297-179. Nat Genet. 1997. PMID: 9020844
-
Urinary tract abnormalities in hand-foot-genital syndrome.Am J Med Genet. 1989 Apr;32(4):555. doi: 10.1002/ajmg.1320320429. Am J Med Genet. 1989. PMID: 2774004 No abstract available.
-
The hand-foot-genital syndrome: on the variable expression in affected males.Clin Genet. 1993 May;43(5):232-4. doi: 10.1111/j.1399-0004.1993.tb03808.x. Clin Genet. 1993. PMID: 8375102
-
EEC syndrome: report on 20 new patients, clinical and genetic considerations.Am J Med Genet. 1990 Sep;37(1):42-53. doi: 10.1002/ajmg.1320370112. Am J Med Genet. 1990. PMID: 2240042 Review.
-
Marfanoid features and craniosynostosis: report of one case and review.Clin Dysmorphol. 1993 Jul;2(3):220-4. Clin Dysmorphol. 1993. PMID: 8287183 Review.
Cited by
-
Bisphenol A exposure alters developmental gene expression in the fetal rhesus macaque uterus.PLoS One. 2014 Jan 23;9(1):e85894. doi: 10.1371/journal.pone.0085894. eCollection 2014. PLoS One. 2014. PMID: 24465770 Free PMC article.
-
Novel HOXA13 mutations and the phenotypic spectrum of hand-foot-genital syndrome.Am J Hum Genet. 2000 Jul;67(1):197-202. doi: 10.1086/302961. Epub 2000 Jun 5. Am J Hum Genet. 2000. PMID: 10839976 Free PMC article.
-
Hypospadias and endocrine disruption: is there a connection?Environ Health Perspect. 2001 Nov;109(11):1175-83. doi: 10.1289/ehp.011091175. Environ Health Perspect. 2001. PMID: 11713004 Free PMC article. Review.
-
A missense mutation of HOXA13 underlies hand-foot-genital syndrome in a Chinese family.J Genet. 2017 Sep;96(4):647-652. doi: 10.1007/s12041-017-0810-y. J Genet. 2017. PMID: 28947713
Publication types
MeSH terms
LinkOut - more resources
Full Text Sources
Molecular Biology Databases