An infant with multiple congenital abnormalities and biochemical findings suggesting a variant of galactosialidosis.
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.
Say
B
B
H Allen Chapman Research Institute of Medical Genetics, Children's Medical Center, Tulsa, OK 74135.
Hommes
F A
FA
Malik
S A
SA
Carpenter
N J
NJ
D000015:Abnormalities, Multiple / Q000201:enzymology / Q000235:genetics* / Q000503:physiopathology; D006330:Heart Defects, Congenital / Q000201:enzymology / Q000235:genetics / Q000503:physiopathology; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D007866:Leg / Q000000981:diagnostic imaging; D014057:Tomography, X-Ray Computed; D001616:beta-Galactosidase / Q000172:deficiency*
D001616:beta-Galactosidase