Angelman syndrome and hypothyroidism - coincidence or unique correlation?

被引:0
|
作者
Paprocka, Justyna [2 ]
Jamroz, Ewa [2 ]
Kalina, Maria [1 ]
Kalina-Faska, Barbara [1 ]
Malecka-Tendera, Ewa [1 ]
Marszal, Elzbieta [2 ]
机构
[1] Silesian Med Univ, Dept Paediat Endocrinol & Diabet, Katowice, Poland
[2] Silesian Med Univ, Child Neurol Dept, Katowice, Poland
关键词
Angelman syndrome; hypoparathyroidism; children;
D O I
暂无
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Angelman Syndrome (AS, MIM 105830), classified among neurogenetic disorders, occurs with estimated frequency of 1: 10 000 to 1:40 000. The characteristics features apart from neurodevelopmental impairment and seizures include peculiar face traits, absent speech, outburst of laughter, ataxia, stereotyped jerky (puppet-like) movements. The authors report three children with Angelman syndrome who were also diagnosed with hypothyroidism.
引用
收藏
页码:545 / 546
页数:2
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