Moore-Federman syndrome and acromicric dysplasia: are they the same entity?

J Med Genet. 1989 May;26(5):320-5. doi: 10.1136/jmg.26.5.320.

Abstract

Four unrelated patients are reported with short stature, stiffness of the joints, short fingers, inability to make a fist, and thickened skin on the forearms. Investigations have failed to show a lysosomal storage disorder and radiographs show non-specific changes with a delayed carpal bone age. The clinical features in the four children are very similar to the recently described acromicric dysplasia. There are also similarities to Moore-Federman syndrome which has only been described in one family. The case is made that acromicric dysplasia and Moore-Federman syndrome are the same entity.

MeSH terms

  • Abnormalities, Multiple / diagnosis*
  • Child
  • Child, Preschool
  • Diagnosis, Differential
  • Dwarfism / diagnosis*
  • Face / abnormalities*
  • Female
  • Genes, Dominant
  • Hand Deformities, Congenital / diagnosis*
  • Humans
  • Hyperopia / diagnosis*
  • Male
  • Syndrome