Rud's syndrome

Alternative eponyms

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A syndrome characterised by ichtyosis of the skin, usually present from early infancy, psychomotor retardation, epileptic seizures, short stature, retinitis pigmentosa, polyneuropathy, hypogonadism and severe mental retardation.

Description

A syndrome characterised by ichtyosis of the skin, usually present from early infancy, psychomotor retardation, epileptic seizures, short stature, retinitis pigmentosa, polyneuropathy, hypogonadism and severe mental retardation. Both sexes affected, male-to-female ratio 2: 1. Inheritance is autosomal recessive or X-linked.

Some writers consider this and the Sjögren-Larsson syndrome the same entity.

Sjögren-Larsson syndrome is entered as a separate entity under Karl Gustaf Torsten Sjögren, Swedish psychiatrist and geneticist, born 1896.

Bibliography

  • E. Rud:
    Et Tilfælde af Infantilismus med Tetani, Epilepsy, Polyneuritis, Ichtiosis og Anæmia af Pernicios type. Hospitalstidende, Copenhagen, 1927, 70: 525-538. Et Tilfaelde af Hypogenitalisme (Eunuchoidismus feminus) med partiel Gigantisme og Ichthyosis.
    Hospitalstidende, 1929, 72: 426-433.

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