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.

• Authors: A E Donnenfeld, D S Schrager, S L Corson
• Journal: American journal of medical genetics (Am J Med Genet) Vol. 44 Issue 4 Pg. 482-4 (Nov 01 1992) ISSN: 0148-7299 [Print] United States
• PMID: 1442892 (Publication Type: Case Reports, Journal Article)

Topics

• Adult
• Child, Preschool
• Female
• Foot Deformities, Congenital (genetics)
• Hand Deformities, Congenital (genetics)
• Humans
• Hypospadias (genetics)
• Infant, Newborn
• Male
• Pedigree
• Pregnancy
• Pregnancy Complications
• Syndrome
• Urinary Tract (abnormalities)