Trisomy 13 syndrome and neural tube defects
- 1 August 1990
- journal article
- research article
- Published by Wiley in American Journal of Medical Genetics
- Vol. 36 (4) , 513-516
- https://doi.org/10.1002/ajmg.1320360429
Abstract
Abnormalities of the CNS, such as arhinen‐cephaly or holoprosencephaly, are common findings in trisomy 13 syndrome. However, neural tube defects (NTDs) are rarely reported. A review of 267 patients in the literature on reported CNS developmental defects in trisomy 13 syndrome showed only 6 patients with lumbosacral NTDs. No case of en‐cephalocele or anencephaly was found. We report on 3 patients with spina bifida from the records of 34 necropsies of karyotyped tri‐somy 13 syndrome, which were found among 403, 710 births.Keywords
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