Sjögren-Larsson syndrome in dizygous twin sisters.
作者信息
David T J
出版信息
Hum Hered. 1980;30(1):21-6. doi: 10.1159/000153083.
PMID:7188765
Abstract
Two dizygous twin sisters with the Sjögren-Larsson syndrome are described. There was parental consanguinity, and the condition is inherited as an autosomal recessive. The main features are mental retardation, spastic diplegia and ichthyosis. Sensory defects of gums and abnormal facial movements were found in the twins, these being recognised features of the syndrome. It is suggested that the condition may be due to an abnormality of the neural crest.
摘要
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