Sporadic case of apparent aprosencephaly
- 1 January 1979
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics
- Vol. 3 (3) , 311-314
- https://doi.org/10.1002/ajmg.1320030312
Abstract
We report a sporadic case of apparent aprosencephaly, ie, apparent absence of forebrain with the facial anomalies of the (alobar) holoprosencephaly field complex. The infant lived 14 months, manifested temperature variations between 34.5 and 41.7°C, and suffered at least one episode of severe hyponatremia suggesting hypoaldosteronism of brain or adrenal origin. Eye changes were suggestive of Rieger mesodermal dysgenesis.Keywords
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