Theile U
Z Orthop Ihre Grenzgeb. 1978;116(6):912-4.
Oligophrenia, ichthyosis, and spastic di- or tetraplegia are the main symptoms of Sjögren-Larsson syndrome. Additional findings in some cases are speech defects, seizures, small stature, and changes of the eye. In 1957 the Swedish authors first described this syndrome, untill now there are some 125 cases, on which the diagnosis can be made certainly. Sjögren-Larsson syndrom follows the autosomal recessive mode of inheritance. Therefore genetic counseling seems to be of great value in families with this syndrome.
精神发育迟缓、鱼鳞病和痉挛性双瘫或四肢瘫是舍格伦-拉尔森综合征的主要症状。部分病例的其他表现有言语缺陷、癫痫发作、身材矮小和眼部病变。1957年瑞典学者首次描述了该综合征，目前约有125例确诊病例。舍格伦-拉尔森综合征遵循常染色体隐性遗传模式。因此，对于患有该综合征的家庭，遗传咨询似乎具有重要价值。
