Case of lethal multiple pterygium syndrome with special reference to the origin of pterygia

Am J Med Genet. 1989 Aug;33(4):537-41. doi: 10.1002/ajmg.1320330425.


A case of lethal multiple pterygium syndrome is presented. Besides the anomalies usually associated with this syndrome, cardiac hypertrophy and connective tissue abnormalities were observed. On the basis of these observations, we suggest that an abnormally fragile collagen constitution is the principal disorder in the lethal multiple pterygium syndrome, which is responsible for the pathogenesis of fetal immobility, pterygia, and many of the associated anomalies.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / diagnosis*
  • Adult
  • Cardiomegaly / etiology
  • Collagen Diseases / etiology
  • Collagen Diseases / physiopathology
  • Female
  • Fetal Movement
  • Genes, Lethal
  • Humans
  • Limb Deformities, Congenital
  • Lymphangioma / etiology
  • Lymphangioma / ultrastructure
  • Male
  • Neck / abnormalities
  • Pregnancy
  • Pterygium / etiology*
  • Skin Abnormalities
  • Skin Neoplasms / etiology
  • Skin Neoplasms / ultrastructure
  • Syndrome