Intrafamilial variability of Pfeiffer-type cardiocranial syndrome

Abstract

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.