MALFORMATION SYNDROMES

The Saethre Chotzen Syndrome (SCS) is characterized by craniosynostosis, low set frontal hairline, parrot beaked nose with deviated septum, ptosis of the eyelids, strabismus, refractive error, tear duct stenosis, dystopia canthorum, brachydactyly and abnormal dermatoglyphic patterns. The syndrome follows an autosomal dominant mode of transmission with complete penetrance and variable expressivity. Many cases of SCS have been previously reported but erroneously diagnosed as Crouzon syndrome, 'pseudo Crouzon' syndrome, simple craniosynostosis, microcephaly or other inappropriate diagnostic category. Based on the findings in 6 kindreds with 31 affected individuals and an analysis of well documented cases from the literature, the syndrome is delineated. Close attention to minor skeletal anomalies and 'incidental' findings is emphasized.