PFEIFFER TYPE CARDIOCRANIAL SYNDROME - A 3RD CASE-REPORT

Pfeiffer-type cardiocranial syndrome is a rare condition reported prev iously in three patients, two of whom were sibs. All three patients sh ared features that included growth and developmental retardation, sagi ttal synostosis, hypertelorism, low set ears, micrognathia with mandib ular ankylosis, congenital heart defects, and genital anomalies. The p urposes of this report are to present a fourth patient with features o f the Pfeiffer-type cardiocranial syndrome, to expand the clinical phe notype of this condition, and to present evidence that supports the co ncept that this phenotype represents a distinct nosological entity.