Format

Send to

Choose Destination
See comment in PubMed Commons below
J Pediatr. 2011 Nov;159(5):825-831.e1. doi: 10.1016/j.jpeds.2011.04.042. Epub 2011 Jun 16.

Phenotype severity in the bladder exstrophy-epispadias complex: analysis of genetic and nongenetic contributing factors in 441 families from North America and Europe.

Author information

1
Institute of Human Genetics, Children's Hospital, University of Bonn, Bonn, Germany. reutter@uni-bonn.de

Abstract

OBJECTIVE:

To identify genetic and nongenetic risk factors that contribute to the severity of the bladder exstrophy-epispadias complex (BEEC).

STUDY DESIGN:

Patients with BEEC from North America (n = 167) and Europe (n = 274) were included. The following data were collected: associated anomalies, parental age at conception, mode of conception, periconceptional folic acid supplementation, maternal risk factors during pregnancy, and environmental risk factors. The patients were divided into 3 subgroups according to phenotype severity: (i) mild, epispadias (n = 43); (ii) intermediate, classic bladder exstrophy (n = 366); and (iii) severe, cloacal exstrophy (n = 31). These subgroups then were compared with identify factors that contribute to phenotype severity.

RESULTS:

Males were overrepresented in all subgroups. A relatively high prevalence of cleft lip, with or without cleft palate, was observed. Maternal smoking and medical radiation during the first trimester were associated with the severe cloacal exstrophy phenotype. Compliance with periconceptional folic acid supplementation was associated with the mildest phenotype (epispadias).

CONCLUSIONS:

Periconceptional folic acid supplementation appears to prevent the development of the severe phenotype of BEEC.

PMID:
21679965
PMCID:
PMC3409088
DOI:
10.1016/j.jpeds.2011.04.042
[Indexed for MEDLINE]
Free PMC Article
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Elsevier Science Icon for PubMed Central
    Loading ...
    Support Center