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Megalourethra: A report of three cases associated with maternal diabetes and a review of the literature—is sonic hedgehog the common pathway?
Author(s) -
Vaux Keith K.,
Jones Marilyn C.,
Benirschke Kurt,
Bird Lynne M.,
Jones Kenneth L.
Publication year - 2004
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.30286
Subject(s) - sonic hedgehog , offspring , diabetes mellitus , hedgehog signaling pathway , medicine , hedgehog , congenital malformations , pregnancy , endocrinology , biology , genetics , signal transduction
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.