Megalourethra: A report of three cases associated with maternal diabetes and a review of the literature—is sonic hedgehog the common pathway?

✍ Scribed by Keith K. Vaux; Marilyn C. Jones; Kurt Benirschke; Lynne M. Bird; Kenneth L. Jones

• Publisher: John Wiley and Sons
• Year: 2004
• Tongue: English
• Weight: 145 KB
• Volume: 132A
• Category: Article
• ISSN: 1552-4825
• DOI: 10.1002/ajmg.a.30286

✦ Synopsis

Abstract

The mechanisms by which maternal diabetes causes malformations in the offspring have yet to be elucidated. The purpose of this report is twofold: first, to describe three male infants born with multiple congenital anomalies and megalourethra, a defect which has not been previously reported in infants of women with diabetes; and second, to indicate that the defects seen in association with megalourethra in these three infants are similar to those seen as a consequence of abnormalities in sonic hedgehog, suggesting that maternal diabetes may affect sonic hedgehog expression in susceptible tissues during critical stages of development. Published 2004 Wiley‐Liss, Inc.