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XK aprosencephaly and anencephaly in sibs

Townes, Phillip L.
Reuter, Karen L.
Rosquete, E. E.
Magee, B. Dale
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Abstract

Recent studies have suggested a causal and pathogenetic relationship between holoprosencephaly and anencephaly. In support of the proposed relationship we report a sibship that includes anencephalic male twins and a female infant with a severe form of alobar holoprosencephaly, radial aplasia, and oligodactyly. The upper limb and brain malformations are considered to represent aprosencephaly syndrome. The coexistence of anencephaly and aprosencephaly within a sibship suggests that XK aprosencephaly syndrome may be an autosomal recessive disorder.

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Am J Med Genet. 1988 Mar;29(3):523-8. Link to article on publisher's site

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DOI
10.1002/ajmg.1320290308
PubMed ID
3287923
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