Literature DB >> 2596506

A case of cardio-facio-cutaneous syndrome.

E S Mucklow1.   

Abstract

A 6-yr-old girl is described who presented with failure to thrive at age 3 months and was found to have mental retardation, growth retardation, disproportionately large head, distinctive face, abnormal hair, eczema, heart defect, splenomegaly, and multiple hemangiomata. She is thought to have the cardio-facio-cutaneous syndrome and to be the first such case identified in Britain.

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Year:  1989        PMID: 2596506     DOI: 10.1002/ajmg.1320330411

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


  2 in total

1.  Cardiofaciocutaneous syndrome with new ectodermal manifestations.

Authors:  P D Turnpenny; J C Dean; I A Auchterlonie; A W Johnston
Journal:  J Med Genet       Date:  1992-06       Impact factor: 6.318

Review 2.  The cardio-facio-cutaneous syndrome: report of a patient and review of the literature.

Authors:  A Bottani; I Hammerer; A Schinzel
Journal:  Eur J Pediatr       Date:  1991-05       Impact factor: 3.183

  2 in total

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