Literature DB >> 484598

Sporadic case of apparent aprosencephaly.

W N Adkins, E G Kaveggia.   

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.

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Year:  1979        PMID: 484598     DOI: 10.1002/ajmg.1320030312

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  1 in total

1.  Aprosencephaly: review of the literature and report of a case with cerebellar hypoplasia, pigmented epithelial cyst and Rathke's cleft cyst.

Authors:  T S Kim; S Cho; D W Dickson
Journal:  Acta Neuropathol       Date:  1990       Impact factor: 17.088

  1 in total

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