Aphallia as part of urorectal septum malformation sequence in an infant ofa diabetic mother

A male patient with aphallia, anal stenosis, tetralogy of Fallot, multiple vertebral anomalies including sacral agenesis and central nervous system (C NS) malformations was born after a pregnancy complicated by poorly controll ed maternal diabetes. Aphallia is an extremely rare abnormality and can be part of the urorectal septum malformation sequence (URSMS), While aphallia has not been reported in infants of diabetic mothers, urogenital malformati ons are known to occur with increased frequency. Two female products of pre gnancies complicated by diabetes presented with multiple malformations incl uding anal atresia and recto-vaginal fistula consistent with the diagnosis of URSMS, The three patients share CNS, cardiac, and vertebral anomalies, a bnormalities secondary to abnormal blastogenesis and characteristic of diab etic embryopathy, URSMS is also caused by abnormal blastogenesis, Therefore , this particular malformation should be viewed in the context of the multi ple blastogenetic abnormalities in the cases reported here. The overlap of findings of URSMS in our cases with other abnormalities of blastogenesis, s uch as VATER association or sacral agenesis is not surprising, as these ass ociations are known to lack clear diagnostic boundaries. (C) 1999 Wiley-Lis s, Inc.