MALFORMATION SYNDROMES

In the past, a great deal of confusion in the nosology of craniosynostosis syndromes has been apparent. Such syndromes should never be classified on the basis of which sutures are synostosed nor on the presence or absence of mental retardation. In this paper, they are classified on the basis of overall clinical similarity and genetic considerations. Findings in each syndrome, the genetic aspects and the problems in differential diagnosis are discussed. Disorders presented include the Kleeblattschadel anomaly, Crouzon syndrome, Apert syndrome, Pfeiffer syndrome, Saethre Chotzen syndrome, Carpenter syndrome, Christian syndrome, Summitt syndrome, Baller Gerold syndrome, Lowry syndrome, Gorlin Chaudhry Moss syndrome and three sporadic craniosynostosis syndromes. A discussion of spurious craniosynostosis syndrome entities is also presented.