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Journal of Medical Genetics logoLink to Journal of Medical Genetics
. 1992 Jun;29(6):423–424. doi: 10.1136/jmg.29.6.423

An infant with multiple congenital abnormalities and biochemical findings suggesting a variant of galactosialidosis.

B Say 1, F A Hommes 1, S A Malik 1, N J Carpenter 1
PMCID: PMC1015996  PMID: 1619639

Abstract

A female newborn probably with a variant form of galactosialidosis is described. The patient, in addition to the common findings seen in early infantile forms of classical galactosialidosis, displayed an unusual combination of congenital malformations including complex cyanotic congenital heart disease with dextrocardia and situs inversus.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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