Cephalic malformations in Saethre-Chotzen syndrome. Acrocephalosyndactyly type III.
Specific anomalies of the skull in eight family members affected with Saethre-Chotzen syndrome were documented by cephalometric analysis of standardized skull radiographs. The most severe deviations included reduced length and abnormal position of the posterior cranial base, low position of the sella turcica, reduced mandibular ramus length, steep mandibular plane angle, and, in adults, reduced facial depth. A feature of the syndrome may be the absence or reduced size of cranial sinuses.
D000168:Acrocephalosyndactylia / Q000000981:diagnostic imaging* / Q000235:genetics; D000293:Adolescent; D000328:Adult; D000368:Aged; D002508:Cephalometry; D002648:Child; D005260:Female; D006257:Head / Q000002:abnormalities; D006801:Humans; D008297:Male; D008875:Middle Aged; D011859:Radiography; D012886:Skull / Q000002:abnormalities* / Q000000981:diagnostic imaging; D013577:Syndrome