Sporadic case of apparent aprosencephaly
โ Scribed by Adkins, W. N. ;Kaveggia, Elisabeth G.
- Publisher
- John Wiley and Sons
- Year
- 1979
- Tongue
- English
- Weight
- 255 KB
- Volume
- 3
- Category
- Article
- ISSN
- 0148-7299
No coin nor oath required. For personal study only.
โฆ Synopsis
We report a sporadic case of apparent aprosencephaly, ie, apparent absence of forebrain with the facial anomalies of the (alobar) holoprosencephaly field complex. The infantiived 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.
๐ SIMILAR VOLUMES
Facioscapulohumeral dystrophy (FSHD) is an autosomaldominant muscular disorder associated with a short (<35 kb) EcoRI/BlnI fragment resulting from deletion of an integral number of units of a 3.3-kb repeat located at 4q35. In this study, we determined fragment sizes separated by pulsed-field gel ele