Literature DB >> 263437

Normal intelligence in two children with Carpenter syndrome.

J L Frias, A H Felman, A L Rosenbloom, S N Finkelstein, W F Hoyt, B D Hall.   

Abstract

Previous reports have noted a constant association between the Carpenter syndrome (acrocephalopolysyndactyly, type II) and mental retardation. We report two patients with this condition with normal intelligence. These observations indicate that mental deficiency is not necessarily a component of the Carpenter syndrome and that early surgical correction of the craniosynostoses may improve the chances of normal mentality.

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Year:  1978        PMID: 263437     DOI: 10.1002/ajmg.1320020210

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  2 in total

1.  Carpenter syndrome with normal intelligence and precocious growth.

Authors:  J White; D B Boldt; D J David; L Sheffield; D A Simpson
Journal:  Acta Neurochir (Wien)       Date:  1981       Impact factor: 2.216

2.  A Novel Aberrant Splice Site Mutation in RAB23 Leads to an Eight Nucleotide Deletion in the mRNA and Is Responsible for Carpenter Syndrome in a Consanguineous Emirati Family.

Authors:  S Ben-Salem; M A Begum; B R Ali; L Al-Gazali
Journal:  Mol Syndromol       Date:  2012-12-01
  2 in total

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