Report of two sibs with Knobloch syndrome (encephalocoele and viteroretinal degeneration) and other anomalies

Am J Med Genet. 1998 Jul 7;78(3):286-90. doi: 10.1002/(sici)1096-8628(19980707)78:3<286::aid-ajmg16>;2-b.


We report on two sibs with high myopia, vitreoretinal degeneration (VRD), and occipital encephalocoele or scalp lesion. We review the literature on Knobloch syndrome, discuss possible causes, and suggest a possible involvement of mesoderm in the morphogenesis. One case presents with very early onset of severe eye disease, whereas the other is notable for the very mild scalp defect. In addition, both appear to have an unusual pulmonary lymphatic condition.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Encephalocele / genetics*
  • Eye Abnormalities / pathology
  • Humans
  • Infant
  • Infant, Newborn
  • Lung / abnormalities
  • Lymphatic System / abnormalities
  • Male
  • Mesoderm
  • Myopia / genetics*
  • Nuclear Family
  • Retinal Degeneration / genetics*
  • Scalp / abnormalities
  • Syndrome