| Literature DB >> 484598 |
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 degrees 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.Entities:
Mesh:
Year: 1979 PMID: 484598 DOI: 10.1002/ajmg.1320030312
Source DB: PubMed Journal: Am J Med Genet ISSN: 0148-7299