Article Text

Download PDFPDF
Pfeiffer type cardiocranial syndrome: a third case report.
  1. L Williamson-Kruse,
  2. L G Biesecker
  1. National Institutes of Health, National Center for Human Genome Research, Laboratory of Genetic Disease Research, Bethesda, MD 20892-4470, USA.


    Pfeiffer-type cardiocranial syndrome is a rare condition reported previously in three patients, two of whom were sibs. All three patients shared features that included growth and developmental retardation, sagittal synostosis, hypertelorism, low set ears, micrognathia with mandibular ankylosis, congenital heart defects, and genital anomalies. The purposes of this report are to present a fourth patient with features of the Pfeiffer-type cardiocranial syndrome, to expand the clinical phenotype of this condition, and to present evidence that supports the concept that this phenotype represents a distinct nosological entity.

    Statistics from

    Request Permissions

    If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.