Reutter, Heiko and Boyadjiev, Simeon A. and Gambhir, Lisa and Ebert, Anne-Karoline and Roesch, Wolfgang H. and Stein, Raimund and Schroeder, Annette and Boemers, Thomas M. and Bartels, Enrika and Vogt, Hannes and Utsch, Boris and Mueller, Martin and Detlefsen, Birte and Zwink, Nadine and Rogenhofer, Sebastian and Gobet, Rita and Beckers, Goedele M. A. and Bokenkamp, Arend and Kajbafzadeh, Abdol-Mohammad and Jaureguizar, Enrique and Draaken, Markus and Lakshmanan, Yegappan and Gearhart, John P. and Ludwig, Michael and Noethen, Markus M. and Jenetzky, Ekkehart (2011) Phenotype Severity in the Bladder Exstrophy-Epispadias Complex: Analysis of Genetic and Nongenetic Contributing Factors in 441 Families from North America and Europe. JOURNAL OF PEDIATRICS, 159 (5). 825-U166. ISSN 0022-3476,
Full text not available from this repository. (Request a copy)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. (J Pediatr 2011;159:825-31).
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | POSSIBLE ASSOCIATION; CLOACAL EXSTROPHY; DEFECTS; BIRTHS; RISK; |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Lehrstuhl für Kinder- und Jugendmedizin |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 27 May 2020 09:34 |
| Last Modified: | 27 May 2020 09:34 |
| URI: | https://pred.uni-regensburg.de/id/eprint/19905 |
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