An etiologic and nosologic overview of craniosynostosis 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. The findings in each syndrome, the genetic aspects and the problems in differential diagnosis are discussed. Disorders presented include the Kleeblattschädel 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.
D000015:Abnormalities, Multiple / Q000235:genetics*; D000168:Acrocephalosyndactylia / Q000235:genetics; D002675:Child, Preschool; D003394:Craniofacial Dysostosis / Q000235:genetics; D003398:Craniosynostoses / Q000145:classification / Q000209:etiology / Q000235:genetics*; D004374:Ductus Arteriosus, Patent / Q000235:genetics; D005260:Female; D006130:Growth Disorders / Q000235:genetics; D006801:Humans; D006983:Hypertrichosis / Q000235:genetics; D007926:Lesch-Nyhan Syndrome / Q000235:genetics; D017880:Limb Deformities, Congenital; D008297:Male; D008831:Microcephaly / Q000235:genetics; D010375:Pedigree; D012886:Skull / Q000002:abnormalities; D013576:Syndactyly / Q000235:genetics; D013577:Syndrome; D014849:Waardenburg Syndrome / Q000235:genetics