Spondylometaphyseal dysplasia-Sedaghatian type

Am J Med Genet. 1998 Apr 13;76(5):410-4.

Abstract

We present the radiological findings in two unrelated cases with spondylometaphyseal dysplasia type Sedaghatian. We review the literature and identify additional anomalies including disproportionately long fibulae, dysharmonious maturation and turricephaly.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Bone and Bones / abnormalities
  • Bone and Bones / diagnostic imaging
  • Fatal Outcome
  • Female
  • Fetal Death
  • Fibula / abnormalities
  • Fingers / abnormalities
  • Genes, Recessive
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Osteochondrodysplasias / diagnosis*
  • Osteochondrodysplasias / diagnostic imaging
  • Radiography
  • Skull / abnormalities
  • Spine / abnormalities
  • Spine / diagnostic imaging