An infant with multiple congenital abnormalities and biochemical findings suggesting a variant of galactosialidosis.
نویسندگان
چکیده
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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ورودعنوان ژورنال:
- Journal of medical genetics
دوره 29 6 شماره
صفحات -
تاریخ انتشار 1992