Prenatal detection of congenital hypospadias in the Wolf-Hirschhorn (4p-) syndrome

Prenat Diagn. 1994 Dec;14(12):1166-9. doi: 10.1002/pd.1970141212.

Abstract

Hypospadias is one of the most prominent and characteristic midline defects in male infants with the Wolf-Hirschhorn (4p-) syndrome. In this report we present a case in which hypospadias was identified prenatally at 29 weeks' gestation in association with intrauterine growth retardation. Cytogenetic evaluation after birth confirmed a 46,XY,del(4)(p14) karyotype. The prenatal identification of hypospadias in fetuses with intrauterine growth retardation and normal amniotic fluid should suggest a diagnosis of Wolf-Hirschhorn syndrome.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics
  • Adult
  • Chromosomes, Human, Pair 4*
  • Female
  • Fetal Growth Retardation / genetics
  • Gene Deletion*
  • Humans
  • Hypospadias / diagnostic imaging*
  • Hypospadias / genetics
  • Infant, Newborn
  • Karyotyping
  • Male
  • Pregnancy
  • Syndrome
  • Ultrasonography, Prenatal*