Further delineation of spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type, with emphasis on diagnostic features

Am J Med Genet. 1993 Feb 15;45(4):488-500. doi: 10.1002/ajmg.1320450419.


Further delineation of a generalized bone dysplasia which we call spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type is presented. This dwarfing condition has several serious complications, with the most common cause of death being spinal cord damage secondary to atlantoaxial instability. It is a heritable condition with an autosomal recessive mode of transmission. Radiologic diagnostic criteria are developed on the basis of studies in 8 patients with the oldest being between 4 and 5 years old. The condition is clinically and radiographically apparent neonatally or in early infancy, and it is probable that all or almost all affected individuals will come to medical attention in the age range screened by this study.

MeSH terms

  • Abnormalities, Multiple / diagnosis*
  • Abnormalities, Multiple / diagnostic imaging
  • Abnormalities, Multiple / genetics
  • Calcinosis / diagnosis*
  • Calcinosis / genetics
  • Child, Preschool
  • Dwarfism / diagnosis*
  • Dwarfism / diagnostic imaging
  • Dwarfism / genetics
  • Extremities / diagnostic imaging
  • Female
  • Humans
  • Infant
  • Infant, Newborn
  • Limb Deformities, Congenital*
  • Male
  • Osteochondrodysplasias / diagnosis*
  • Osteochondrodysplasias / diagnostic imaging
  • Osteochondrodysplasias / genetics
  • Skull / diagnostic imaging
  • Syndrome
  • Tomography, X-Ray Computed