Familial congenital cataract, non-progressive neurological disorders and mental deficiency: a new X-linked syndrome?

Ophthalmic Paediatr Genet. 1985 Apr;5(3):201-3. doi: 10.3109/13816818509006135.

Abstract

The association of congenital cataracts, non-progressive spastic paresis and severe mental deficiency in male cousins, whose mothers are similarly though less affected, is reported. In the literature a few observations give rise to comparison, but to the best of our knowledge, an identical case has not been published.

Publication types

  • Case Reports

MeSH terms

  • Cataract / congenital
  • Cataract / genetics*
  • Female
  • Genetic Linkage*
  • Humans
  • Infant, Newborn
  • Intellectual Disability / genetics*
  • Male
  • Nervous System Diseases / genetics*
  • Pedigree
  • Sex Chromosome Aberrations*
  • Syndrome
  • X Chromosome*