Greenberg dysplasia (HEM) and lethal X linked dominant Conradi-Hünermann chondrodysplasia punctata (CDPX2): presentation of two cases with overlapping phenotype

J Med Genet. 2003 Dec;40(12):e129. doi: 10.1136/jmg.40.12.e129.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Bone Diseases, Developmental / diagnosis*
  • Bone Diseases, Developmental / diagnostic imaging
  • Bone Diseases, Developmental / pathology
  • Calcinosis / diagnosis
  • Calcinosis / diagnostic imaging
  • Cholesterol / chemistry
  • Cholesterol / metabolism
  • Chondrodysplasia Punctata / diagnosis*
  • Chondrodysplasia Punctata / genetics
  • Chondrodysplasia Punctata / pathology
  • Diagnosis, Differential
  • Female
  • Fetal Diseases / diagnosis*
  • Fetal Diseases / genetics
  • Fetal Diseases / pathology
  • Genetic Diseases, X-Linked / diagnosis*
  • Genetic Diseases, X-Linked / pathology
  • Humans
  • Hydrops Fetalis / diagnosis
  • Hydrops Fetalis / diagnostic imaging
  • Phenotype
  • Pregnancy
  • Radiography
  • Sterols / analysis
  • Sterols / metabolism

Substances

  • Sterols
  • Cholesterol