Disialotransferrin developmental deficiency syndrome and olivopontocerebellar atrophy.
نویسندگان
چکیده
منابع مشابه
Olivopontocerebellar atrophy of neonatal onset and disialotransferrin developmental deficiency syndrome.
Two brothers presented with olivopontocerebellar atrophy of neonatal onset. The clinical features (failure to thrive, hypotonia, liver disease, effusions, and visual inattention) were similar to those of the four cases already reported, as were the necropsy findings of olivopontocerebellar atrophy, hepatic steatosis and fibrosis, and microcystic renal changes. The clinical similarities between ...
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Clinical and pathological findings are reported in two siblings who presented in the neonatal period with failure to thrive, hypotonia, pericardial effusions, limitation of joint movement, retinal dystrophy and loss of visual function. Additional features were biochemical evidence of purine overproduction and liver dysfunction. Post mortem, the neuropathological findings in both children were t...
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ژورنال
عنوان ژورنال: Archives of Disease in Childhood
سال: 1989
ISSN: 0003-9888,1468-2044
DOI: 10.1136/adc.64.5.764-b