Further delineation of Weaver syndrome

J Pediatr. 1986 Feb;108(2):228-35. doi: 10.1016/s0022-3476(86)80988-x.

Abstract

Seven new cases of Weaver syndrome are described, including the first reported case in an adult. Overgrowth is usually but not always present. The combination of characteristic facies and developmental delay, with the peculiar radiographic findings of accelerated dysharmonic osseous maturation and splaying of the distal long bones, is diagnostic of Weaver syndrome.

Publication types

  • Case Reports
  • Comparative Study

MeSH terms

  • Adult
  • Bone Development
  • Child
  • Child, Preschool
  • Developmental Disabilities / diagnosis*
  • Facial Expression*
  • Female
  • Growth Disorders / diagnosis*
  • Growth Disorders / diagnostic imaging
  • Humans
  • Infant
  • Male
  • Radiography
  • Syndrome