Literature DB >> 6019962

Rubinstein-Taybi syndromes: broad thumbs and great toes, facial abnormalities and mental retardation. aA presentation of three cases.

R G McArthur.   

Abstract

In 1963 Rubinstein and Taybi described, in seven children, a new symptom-complex characterized by broad thumbs and great toes, facial abnormalities, mental retardation and a cluster of congenital malformations. Since then 14 additional cases have been reported. In this paper three more such children are described. Chromosome studies were normal. The etiology of this disorder is unknown but it is probably genetic.

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Year:  1967        PMID: 6019962      PMCID: PMC1936010     

Source DB:  PubMed          Journal:  Can Med Assoc J        ISSN: 0008-4409            Impact factor:   8.262


  3 in total

1.  IMMUNOASSAY OF SERUM GROWTH HORMONE IN ACROMEGALIC PATIENTS.

Authors:  M HARTOG; M A GAAFAR; B MEISSER; R FRASER
Journal:  Br Med J       Date:  1964-11-14

2.  Broad thumbs and toes and facial abnormalities. A possible mental retardation syndrome.

Authors:  J H RUBINSTEIN; H TAYBI
Journal:  Am J Dis Child       Date:  1963-06

3.  Broad thumbs and toes and mental retardation. Unusual dermatoglyphic observations in two individuals.

Authors:  G C Robinson; J R Miller; E G Cook; B Tischler
Journal:  Am J Dis Child       Date:  1966-03
  3 in total
  2 in total

1.  The Rubinstein-Taybi syndrome.

Authors:  C J Padfield; M W Partington; N E Simpson
Journal:  Arch Dis Child       Date:  1968-02       Impact factor: 3.791

2.  Rubinstein-Taybi syndrome: report of a case in a Nigerian child.

Authors:  E O Okoroma; G I Izuora
Journal:  J Natl Med Assoc       Date:  1987-11       Impact factor: 1.798

  2 in total

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