Cranial MR imaging examination ยฎndings of a three and half year old boy with Waardenburg syndrome are described which consisted of bilateral congenital anophthalmia (secondary type), and a hypothalamic hamartoma.
Rubinstein-Taybi syndrome: Cranial MR imaging findings
โ Scribed by R.Nuri Sener
- Publisher
- Elsevier Science
- Year
- 1995
- Tongue
- English
- Weight
- 192 KB
- Volume
- 19
- Category
- Article
- ISSN
- 0895-6111
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โฆ Synopsis
Rubinstein-Taybi syndrome is a syndrome of mental retardation associated with broad thumbs and big toes. The patients have a characteristic flat face with a beaked nose. This paper deals with brain changes in a patient with this syndrome, studied by MR imaging, which mainly consist of bilateral rolandic cortical clefts and diminished white matter, which probably account for mental retardation.
๐ SIMILAR VOLUMES
Previous clinical studies only described epilepsy and EEG abnormalities in patients with hereditary nephritis (Alport syndrome). In this paper, brain MR imaging findings in a 10-month-old boy with hereditary nephritis are described. These included patchy and nodular lesions in the thalami and basal