Spondylometaphyseal dysplasia, Sedaghatian type

Am J Med Genet. 1992 Nov 15;44(5):651-6. doi: 10.1002/ajmg.1320440525.


In 1980 Sedaghatian described an Iranian infant who died shortly after birth. At autopsy, he was found to have subacute myocarditis, cortical necrosis of kidneys, and adrenal and pulmonary hemorrhage. His skeletal abnormalities included mild rhizomelic shortness of his limbs and platyspondylyl and "laciness" of the iliac wings. In 1987 Optiz et al. described another Iranian infant with a similar perinatal course and roentgenograms. This infant was born to first cousins, suggesting an autosomal recessive single gene defect. We report our findings of another infant with a lethal course.

Publication types

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

MeSH terms

  • Bone and Bones / diagnostic imaging
  • Bone and Bones / pathology
  • Consanguinity
  • Heart Block / complications
  • Heart Block / drug therapy
  • Humans
  • Infant, Newborn
  • Isoproterenol / therapeutic use
  • Male
  • Osteochondrodysplasias / complications
  • Osteochondrodysplasias / diagnosis*
  • Osteochondrodysplasias / genetics
  • Osteochondrodysplasias / pathology
  • Radiography


  • Isoproterenol