SINDROME DI RUBINSTEIN E TAYBI ASSOCIATA AD ARTROGRIPOSI

Translated title of the contribution: The syndrome of Rubinstein Taybi associated with arthogryposis

P. Tamaro

Research output: Contribution to journalArticle

Abstract

This report describes a typical case of the syndrome of Rubinstein Taybi (RT) which was observed in a 14 mth old female infant. The subject presented with pronounced mental retardation, was slightly underweight, and had facial dymorphism, and the typical alterations at the level of the thumbs (short, wide and radially deviated) and toes. The syndrome was associated with the presence of arthrogryposis of the lower limbs and parental consanguinity. The author advances the hypothesis that arthrogryposis in this case is linked to the typical muscular hypotonia that characterizes the RT syndrome.

Original languageItalian
Pages (from-to)161-172
Number of pages12
JournalActa Paediatrica Latina
Volume27
Issue number2
Publication statusPublished - 1974

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ASJC Scopus subject areas

  • Medicine(all)

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