Pregnancy in women with cerebrotendinous xanthomatosis (CTX): High risk condition for fetus and newborn infant?

V. M. Berginer, R. Carmi, G. Salen

Research output: Contribution to journalArticlepeer-review

4 Scopus citations

Abstract

Cerebrotendinous xanthomatosis (CTX), is one of the few autosomal recessive progressive storage diseases allowing affected individuals to reproduce. We investigated 38 CTX patients and most of their families. The possibility of a high risk situation for the fetus and/or the apparently healthy newborn infant born to CTX mothers and female carriers of the gene is discussed for genetic counseling purposes and in view of available treatment.

Original languageEnglish
Pages (from-to)11-16
Number of pages6
JournalAmerican Journal of Medical Genetics
Volume31
Issue number1
DOIs
StatePublished - 1 Jan 1988
Externally publishedYes

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