Roentgencephalometric studies of the premature craniofacial synostoses: report of a family with the Saethre-Chotzen syndrome.
Five affected individuals in 4 generations of a family with acrocephalosyndactyly (McKusick ACS Type III; Saethre-Chotzen syndrome) are reported. Serial roentgencephalometric data obtained pre- and postoperatively on the proband were compared with similar measurements on the affected mother and maternal uncle, both of whom have not had operative corrections, and the proband's unaffected older brother. Similarity in skull form among the affected individuals was demonstrated. Head circumference as an index of cranial growth or intracranial capacity was misleading in assessing the intellectual potential of the affected adults. In contrast, cranial capacity, as measured by the modulus, was found to be more reliable.
D000168:Acrocephalosyndactylia / Q000145:classification / Q000000981:diagnostic imaging / Q000235:genetics*; D000328:Adult; D002508:Cephalometry; D003398:Craniosynostoses / Q000000981:diagnostic imaging / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D011859:Radiography; D013577:Syndrome