The Saethre-Chotzen syndrome.
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 craniosynostis, 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.
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000235:genetics*; D000168:Acrocephalosyndactylia / Q000235:genetics*; D000328:Adult; D000886:Anthropometry; D002648:Child; D003394:Craniofacial Dysostosis / Q000175:diagnosis; D003398:Craniosynostoses / Q000000981:diagnostic imaging / Q000235:genetics*; D003878:Dermatoglyphics; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D017880:Limb Deformities, Congenital; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D010641:Phenotype; D011859:Radiography; D013577:Syndrome