Burgio's pseudodiastrophic dwarfism

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A syndrome characterised by short-limb dwarfim, brevicollis, clubfoot, joint contractures and dislocations, cleft palate, and characteristic facies.

Description

A syndrome characterised by short-limb dwarfim, brevicollis, clubfoot, joint contractures and dislocations, cleft palate, and characteristic facies. It is a hereditary form of bone dysplasia. Inheritance is probably autosomal recessive.

See also Lamy-Maroteaux syndrome, or diastrophic dwarfism, under Maurice Emile Joseph Lamy, French physician and medical geneticist, 1885-1975.

Bibliography

  • G. R. Burgio, et al:
    Nanisme pseudodiastrophique. Étude de deux soeurs nouveau-nées.
    Archives francaises de pédiatrie, Paris, 1974, 31: 681.

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