XK aprosencephaly and anencephaly in sibs
โ Scribed by Townes, Philip L. ;Reuter, Karen ;Rosquete, Elizabeth E. ;Magee, B. Dale ;Optiz, John M. ;Reynolds, James F.
- Publisher
- John Wiley and Sons
- Year
- 1988
- Tongue
- English
- Weight
- 420 KB
- Volume
- 29
- Category
- Article
- ISSN
- 0148-7299
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Aprosencephaly is a rare, lethal malformation sequence of the central nervous system that has been attributed to a postneuralation encephaloclastic process. We describe autopsy findings consistent with aprosencephaly in 2 fetuses conceived from a consanguineous mating (first cousins). Both showed an
Major characteristics of the acrocallosal syndrome include severe mental retardation, agenesis or hypoplasia of the corpus callosum, and polydactyly of fingers and toes. In the past few years, anencephaly has also been noted, together with other midline defects. We report on a nonconsanguineous, Nor