Cataract in a fetus at risk for oculo-cerebro-renal syndrome (lowe) View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

1977-02

AUTHORS

W. Endres, J. Schaub, F. H. Stefani, A. Wirtz, V. Zahn

ABSTRACT

A high-risk pregnancy for X-linked recessive inherited Lowe's syndrome was terminated due to a male karyotype in the cultured amniotic fluid cells. The eyes of the male fetus showed specific cataracteous changes of the lens. A posterior lenticonus was due to a defect of the lens capsule. The lenses were of normal size. Loss of lens material through a lens capsule defect could account for the small discoid lens usually seen in Lowe's syndrome. Amino acids in amniotic fluid had normal concentrations except lysine and proline which were markedly elevated. More... »

PAGES

141-144

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/bf01490242

DOI

http://dx.doi.org/10.1007/bf01490242

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1046049004

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/556788


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