Diencephalic neuronal hamartoma associated with congenital obstructive hydrocephalus, anophthalmia, cleft lip and palate and severe mental retardation: a possible new syndrome

@article{Rossiter2000DiencephalicNH,
  title={Diencephalic neuronal hamartoma associated with congenital obstructive hydrocephalus, anophthalmia, cleft lip and palate and severe mental retardation: a possible new syndrome},
  author={John P. Rossiter and Maher M. Khalifa and Sukriti Nag},
  journal={Acta Neuropathologica},
  year={2000},
  volume={99},
  pages={685-690}
}
A male infant was born with severe hydrocephalus, bilateral cleft lip/palate, left anophthalmos and right microphthalmos, and an equino-varus foot deformity. Imaging studies showed enlarged lateral ventricles, apparent absence of the corpus callosum and a midline density in the third ventricular region. He had a normal male karyotype. He was severely mentally retarded and died suddenly at 7 years of age. Neuropathological examination of the brain revealed enlarged and polygyric cerebral… CONTINUE READING