Hydrocephalus, skeletal anomalies, and mental disturbances in a mother and three daughters: a new syndrome

Am J Med Genet. 1995 Dec 4;59(4):506-11. doi: 10.1002/ajmg.1320590419.

Abstract

We report on a family in which a mother and her 3 daughters have delayed psychomotor development and/or psychosis, hydrocephalus with white matter alterations, arachnoid cysts, skeletal anomalies consisting of brachydactyly, and Sprengel anomaly. Biochemical and cytogenetic analyses were normal on all 4 patients. The pattern of inheritance, clinical manifestations, and variability of expression suggest that this is a new hydrocephalus syndrome possibly transmitted as an X-linked dominant trait.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Bone and Bones / abnormalities*
  • Family
  • Female
  • Humans
  • Hydrocephalus / diagnostic imaging
  • Hydrocephalus / genetics*
  • Intellectual Disability / genetics*
  • Pedigree
  • Radiography
  • Syndrome