title: Prenatal detection of congenital hypospadias in the Wolf-Hirschhorn (4p-) syndrome.
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.
authors.affiliation: Department of Obstetrics and Gynecology, Guillermo Grant Benavente Hospital, Concepcion, Chile.
authors.forename: F
authors.initials: F
authors.lastname: Viñals
authors.forename: W
authors.initials: W
authors.lastname: Sepulveda
authors.forename: E
authors.initials: E
authors.lastname: Selman
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D000328:Adult; D002894:Chromosomes, Human, Pair 4; D005260:Female; D005317:Fetal Growth Retardation / Q000235:genetics; D017353:Gene Deletion; D006801:Humans; D007021:Hypospadias / Q000000981:diagnostic imaging* / Q000235:genetics; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D011247:Pregnancy; D013577:Syndrome; D016216:Ultrasonography, Prenatal