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

B Say; F A Hommes; S A Malik; N J Carpenter

doi:10.1136/jmg.29.6.423

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

J Med Genet. 1992 Jun;29(6):423-4. doi: 10.1136/jmg.29.6.423.

Authors

B Say¹, F A Hommes, S A Malik, N J Carpenter

Affiliation

¹ H Allen Chapman Research Institute of Medical Genetics, Children's Medical Center, Tulsa, OK 74135.

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.

Publication types

Case Reports

MeSH terms

Abnormalities, Multiple / enzymology
Abnormalities, Multiple / genetics*
Abnormalities, Multiple / physiopathology
Heart Defects, Congenital / enzymology
Heart Defects, Congenital / genetics
Heart Defects, Congenital / physiopathology
Humans
Infant, Newborn
Karyotyping
Leg / diagnostic imaging
Tomography, X-Ray Computed
beta-Galactosidase / deficiency*

Substances

beta-Galactosidase