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  • Title: Skull base and calvarial deformities: association with intracranial changes in craniofacial syndromes.
    Author: Tokumaru AM, Barkovich AJ, Ciricillo SF, Edwards MS.
    Journal: AJNR Am J Neuroradiol; 1996 Apr; 17(4):619-30. PubMed ID: 8730180.
    Abstract:
    PURPOSE: To analyze the skull and brain malformations in patients with craniofacial syndromes. METHODS: A retrospective analysis of imaging studies of 21 children with craniofacial anomalies (8 with Apert syndrome, 6 with Pfeiffer syndrome, 4 with Crouzon syndrome, 1 with Robert syndrome, 1 with Coffin-Lowry-syndrome, and 1 with Saethre-Chotzen syndrome) was carried out using CT (21 patients), MR imaging (9 patients), and MR venography (2 patients). A series of qualitative and quantitative assessments of the skull base and intracranial structures was performed. RESULTS: Skull base abnormalities were present in all patients. Intracranial abnormalities included ventriculomegaly, frank hydrocephalus, callosal anomalies, hypoplasia/absence of the septum pellucidum, hypoplasia/dysplasia of the hippocampus, dysplasias or distortions of the cerebral cortex, and parenchymal hemorrhage. The anomalies of the corpus callosum, septum pellucidum, and hippocampus appeared primary, whereas the others may have been the result of brain distortion by the calvarial anomaly. MR imaging was more useful than CT for evaluating brain abnormalities. In the two patients in whom it was performed, MR venography showed anomalies of the venous system, indicating that venous anomalies, possibly related to the skull base hypoplasia, may contribute to the intracranial abnormalities. CONCLUSION: A wide range of neuroimaging abnormalities are present in the craniofacial syndromes. Some of these are clearly primary, whereas others appear to be related to the small skull base and sutural synostoses. MR venography may prove useful in defining the cause of some of the associated anomalies.
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