X-linked recessive microencephaly, microphthalmia with corneal opacities, spastic quadriplesia, hypospadias and cryptorchidism

Clin Genet. 1984 Nov;26(5):453-6. doi: 10.1111/j.1399-0004.1984.tb01088.x.

Abstract

Three males in two generations of a family had microencephaly, microphthalmia with corneal opacities, spastic quadriplegia, hypospadias and cryptorchidism. X-linked recssive inheritance is postulated.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Child, Preschool
  • Corneal Opacity / genetics
  • Cryptorchidism / genetics
  • Female
  • Genes, Recessive
  • Genetic Linkage
  • Humans
  • Hypospadias / genetics
  • Infant
  • Infant, Newborn
  • Male
  • Microcephaly / genetics
  • Microphthalmos / genetics
  • Pedigree
  • Quadriplegia / genetics
  • X Chromosome*