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

来源：

NEUROENDOCRINOLOGY LETTERS | 2007年 / 28卷 / 05期

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

页码：545 / 546

页数：2

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