XK aprosencephaly and anencephaly in sibs
| Autor: | Philip L. Townes, Elizabeth E. Rosquete, B. Dale Magee, James F. Reynolds, John M. Optiz, Karen L. Reuter |
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| Rok vydání: | 1988 |
| Předmět: |
Adult
Radial aplasia Biology Oligodactyly XK aprosencephaly Holoprosencephaly Pregnancy XK-aprosencephaly syndrome Prenatal Diagnosis Anencephaly medicine Aprosencephaly Humans Genetics (clinical) Ultrasonography Genetics Skull Infant Newborn Brain Anatomy Syndrome medicine.disease Alobar holoprosencephaly Face Female |
| Zdroj: | American journal of medical genetics. 29(3) |
| ISSN: | 0148-7299 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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