- 作者：Rafael Fabiano Machado Rosa ; Patr¨ªcia Trevisan ; Rosana Cardoso Manique Rosa ; Marina Boff Lorenzen ; Paulo Ricardo Gazzola Zen ; Ceres Andr¨¦ia Oliveira ; Carla Graziadio ; Giorgio Adriano Paskulin
- 刊名：Pediatric Neurology
- 出版年：2013
- 出版时间：September, 2013
- 年：2013
- 卷：49
- 期：3
- 页码：203-204
- 全文大小：126 K
Background
Trisomy 18 or Edwards syndrome is a chromosomal abnormality characterized by a broad clinical picture and a limited survival. More than 130 different abnormalities have been described in these patients¡ªamong them are neural tube defects.Methods
We verified the frequency and types of major neural tube defects observed among patients with trisomy 18. Our sample consisted of consecutive patients evaluated by a clinical genetics service of a referral hospital in southern Brazil between 1975 and 2008. Fisher's exact test (two-tailed) and chi-square test with Yates' correction were used to compare frequencies (P?<?0.05 values were considered as significant).
Results
During the period of evaluation, we identified 50 patients with trisomy 18; 33 (66 % ) were female and age at the first evaluation ranged from 1?day to 16?years (median 14?days). One cell line with full trisomy 18 was the predominant cytogenetic finding (90 % ). Three patients (6 % ) had major neural tube defects, all females. These were two patients (4 % ) with encephaloceles and one (2 % ) with myelomeningocele. This last patient undergo to correction surgery on her first day of life.
Conclusions
Our data, in accordance with the literature, support the idea that the presence of neural tube defects among patients with trisomy 18 is not coincidental (i.e., these defects are actually part of the spectrum of abnormalities presented in trisomy 18). Thus, the diagnosis of trisomy 18 should be considered in children with major neural tube defects, especially in the presence of other abnormalities or dysmorphisms.