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Trisomy 13 syndrome and neural tube defects

1990; Wiley; Volume: 36; Issue: 4 Linguagem: Inglês

10.1002/ajmg.1320360429

1096-8628

José Ignacio Rodrı́guez, M. García, Carmen Morales, Ana Morillo, Alicia Delicado,

Prenatal Screening and Diagnostics

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.