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Trisomy 13 syndrome and neural tube defects

✍ Scribed by Rodríguez, José Ignacio ;García, Marcial ;Morales, Carmen ;Morillo, Ana ;Delicado, Alicia

Publisher: John Wiley and Sons
Year: 1990
Tongue: English
Weight: 479 KB
Volume: 36
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320360429

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✦ Synopsis

Abnormalities of the CNS, such as arhinencephaly 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 encephalocele or anencephaly was found. We report on 3 patients with spina bifida from the records of 34 necropsies of karyotyped trisomy 13 syndrome, which were found among 403,710 births.

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