An unusual type of acrocephalosyndactyly with bilateral parietooccipital "encephalocele," micropenis, and severe mental retardation

Am J Med Genet. 1990 Jul;36(3):265-8. doi: 10.1002/ajmg.1320360302.

Abstract

Here we report on a 2 year 3-month-old boy with acrocephalosyndactyly, a bilateral parietooccipital "encephalocele," micropenis, and severe mental retardation. To our knowledge there are no other reports of similarly affected patients in the literature.

Publication types

  • Case Reports

MeSH terms

  • Acrocephalosyndactylia / diagnostic imaging
  • Acrocephalosyndactylia / pathology*
  • Child, Preschool
  • Encephalocele / diagnostic imaging
  • Encephalocele / pathology*
  • Humans
  • Intellectual Disability / pathology*
  • Male
  • Penis / abnormalities*
  • Radiography