Mental retardation, spasticity, and transverse limb defects

Am J Med Genet. 1987 Jan;26(1):221-3. doi: 10.1002/ajmg.1320260133.

Abstract

We report on a mentally retarded boy with spastic paraplegia and a transverse defect of the left foot who was born to consanguineous parents. This association of ectrodactyly, mental retardation, and spastic paraplegia was first reported by Jancar [1967].

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Child, Preschool
  • Consanguinity
  • Humans
  • Intellectual Disability / genetics*
  • Limb Deformities, Congenital*
  • Male
  • Muscle Spasticity / genetics*
  • Paralysis / genetics*
  • Syndrome