期刊名称：Nascer e Crescer - Revista do Hospital de Crianças Maria Pia
印刷版ISSN：0872-0754
出版年度：2011
卷号：20
期号：2
页码：101-103
出版社：Hospital de Crianças Maria Pia - Centro Hospitalar do Porto
摘要：A 14 month-old boy presented with failure to thrive and severe mental and motor development delay. On physical examination he presented with severe axial hypotonia and dysmorphic syndrome: peculiar facies with small eyes, micrognathia, raised intermamilar distance. He also had multissistemic involvement with nephritic proteinuria, hypertrophy cardiomiopathy with pericardial effusion, raised transaminases, functional deficit of coagulation proteins and unspecific changes of retinal pigmentation. This case illustrates the typical presentation of congenital disorder of glycosilation (CDG) type Ia.
其他摘要：A 14 month-old boy presented with failure to thrive and severe mental and motor development delay. On physical examination he presented with severe axial hypotonia and dysmorphic syndrome: peculiar facies with small eyes, micrognathia, raised intermamilar distance. He also had multissistemic involvement with nephritic proteinuria, hypertrophy cardiomiopathy with pericardial effusion, raised transaminases, functional deficit of coagulation proteins and unspecific changes of retinal pigmentation. This case illustrates the typical presentation of congenital disorder of glycosilation (CDG) type Ia.
其他关键词：congenital disorder of glycosilation;glycosylated transferring
