Brain changes in six patients with rarely encountered skeletal dysplasias are included in this study They had whistling face syndrome, Rubinstein-Taybi syndrome, Trisomy 13, dysosteosclerosis, polyoligodactyly/imperforate anus/vertebral anomalies (PIV) syndrome, and ectodermal dysplasia. The patients were studied by CT, and MR imaging. The distribution of the cerebral changes comprised cortical dysplasia (n=2), abnormal cortical infoldings with normal cortical thickness (n=1), retarded white matter myelination (n=2), callosal dysgenesis (n=1), dilated lateral ventricles (n?2), and cystic dilatation of Virchow-Robin spaces (n=1).
SenerRN: Bilateral, perisylvian and rolandic cortical dysplasia in trisomy 13 syndrome. J Neuroradiol23: 231–233, 1996.
9.
KuznieckyRAndermannF, CBPS study group: The congenital bilateral perisylvian syndrome: Imaging findings in a multicenter study. Am J Neuroradiol15: 139–144, 1994.
10.
HoustonCSGerrardJWIvesEJ: Dysosteosclerosis. Am J Radiol130: 988–991, 1978.
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SenerRNYalmanO: Dysosteosclerosis: Clinicoradiologic findings including brain MRI. Comput Med Imag Graph, 1998 (in press).
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SayBGeraldPS: A new polydactyly/imperforate anus/vertebral anomalies syndrome?Lancet2: 688, 1968.
13.
SenerRN: A patient with facial abnormality, imperforate anus, tetrapolyhypodactyly and meningocele: A variable manifestation of the polyoligodactyly/imperforate anus/-vertebral anomalies syndrome. Pediatr Radiol24: 598–599, 1994.
14.
SenerRN: Polycystic brain (cerebrum polycystica vera) associated with ectodermal dysplasia: A new neurocutaneous syndrome. Pediatr Radiol24: 116–119, 1994.
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BacheschiLAMagalhaesACAMathiasSC: Multiple cystic lesions in white matter without clinical manifestations (unidentified black holes). Neuroradiology (suppl) 37: 246–247, 1995.
