Pathological and neuropathological findings in two males with fragile-X syndrome.

@article{Sabaratnam2000PathologicalAN,
  title={Pathological and neuropathological findings in two males with fragile-X syndrome.},
  author={Maitrayi Sabaratnam},
  journal={Journal of intellectual disability research : JIDR},
  year={2000},
  volume={44 ( Pt 1)},
  pages={81-5}
}
The present paper addresses post mortem pathological and neuropathological findings in two males with fragile-X syndrome, aged 67 and 87 years. Both subjects died from sudden, unexpected cardiovascular causes, and both showed abnormalities of the mitral valve, ventricular hypertrophy and cardiomegaly. Both cases demonstrated macrocephaly characteristic of the classical Martin-Bell phenotype in FRAXA. There was increased brain weight in both cases: macroscopically, both cerebral and cerebellar… CONTINUE READING