[Genetic counseling in Sjögren-Larsson syndrome (author's transl)].
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.
D005817:Genetic Counseling; D006801:Humans; D007057:Ichthyosis / Q000235:genetics*; D010375:Pedigree; D013577:Syndrome
Genetische Beratung bei Sjögren-Larsson-Syndrom.