title: A cephalometric study in Rubinstein-Taybi syndrome.
abstract: A roentgencephalometric study to compare the facial morphology of 18 individuals affected with Rubinstein-Taybi syndrome and 25 of their parents was performed. The main findings in the affected individuals were shortening of facial height and depth, cranial base length, a marked decrease in size of the mandible, and a steep cranial base. A change with age was found for some dimensions. The pattern variability indices were high, indicating an abnormal craniofacial profile. The correlations between most patients were high, although this was less expressed for the younger patients. The parents had a normal pattern profile and pattern profile variability indices. The correlation between parents and their affected children was low. This study suggests that pattern profile analysis of cephalometric measurements may be a useful diagnostic tool in Rubinstein-Taybi syndrome. However, comparable studies of large groups of patients, especially of a younger age, are needed for further ascertainment of normal values in individuals with Rubinstein-Taybi syndrome at different stages of facial development.
authors.affiliation: Clinical Genetics Center Utrecht, Utrecht, The Netherlands.
authors.forename: R C
authors.initials: RC
authors.lastname: Hennekam
authors.forename: M J
authors.initials: MJ
authors.lastname: Van den Boogaard
authors.forename: J M
authors.initials: JM
authors.lastname: Van Doorne
mesh_terms: D000293:Adolescent; D000328:Adult; D002508:Cephalometry; D002648:Child; D005260:Female; D006801:Humans; D008297:Male; D011859:Radiography; D012415:Rubinstein-Taybi Syndrome / Q000000981:diagnostic imaging / Q000473:pathology*