Autosomal dominant osteosclerosis type Stanescu: the third family

Am J Med Genet. 1995 Jul 17;57(4):605-9. doi: 10.1002/ajmg.1320570418.

Abstract

We describe a family with Stanescu osteosclerosis. The propositus and his mother were short and had cortical sclerosis of the long bones, deficient facial sinus development, cranial bone malformations, and normal intelligence. To the best of our knowledge, only two such families have been described previously. The autosomal dominant pattern of inheritance of this skeletal dysplasia is reinforced, as there are many other reportedly affected relatives, including the maternal grandfather, uncles, and aunts of the propositus. The findings of wormian bones and calcification of the falx, not previously described, may be added to the phenotype.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Child
  • Female
  • Humans
  • Infant
  • Male
  • Osteosclerosis / diagnostic imaging
  • Osteosclerosis / genetics*
  • Osteosclerosis / pathology
  • Pedigree
  • Phenotype
  • Radiography