Intrafamilial variability of Pfeiffer-type cardiocranial syndrome

Maria Cristina Digilio, Bruno Marino, Umberto Borzaga, Aldo Giannotti, Bruno Dallapiccola

Research output: Contribution to journalArticlepeer-review


We report on the occurrence of Pfeiffer-type cardiocranial syndrome in a brother and sister born to unaffected parents. The cardinal manifestations of the syndrome are congenital heart defect, sagittal craniosynostosis, genital anomalies, and mental and growth retardation. The craniosynostosis was present in only one of the sibs, suggesting intrafamilial variability of the syndrome. The clinical spectrum of cardiocranial syndrome is further expanded by the inclusion of renal, joint, and palpebral abnormalities detected in our patients. The occurrence of the syndrome in a brother-sister sib pair supports the hypothesis of an autosomal-recessive inheritance.

Original languageEnglish
Pages (from-to)480-483
Number of pages4
JournalAmerican Journal of Medical Genetics
Issue number4
Publication statusPublished - Dec 31 1997


  • Autosomal-recessive inheritance
  • Congenital heart defect
  • Sagittal craniosynostosis
  • Tetralogy of Fallot

ASJC Scopus subject areas

  • Genetics(clinical)


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