Familial distal arthrogryposis with craniofacial abnormalities: a new subtype of type II?

Am J Med Genet. 1989 Jun;33(2):231-7. doi: 10.1002/ajmg.1320330218.


We report on 5 relatives in 3 generations with an apparent new type of distal arthrogryposis. These individuals have manifestations of type I distal arthrogryposis, but in addition, have craniofacial anomalies that include facial asymmetry, hypertelorism, downslanting palpebral fissures, high nasal bridge, malar hypoplasia, micrognathia, highly arched palate, notched chin, and posteriorly angulated ears. Their intelligence is normal. Although these manifestations preclude us from placing this family in the type I (isolated) distal arthrogryposis category, we also are unable to place them in any of the recognized subtypes of type II distal arthrogryposis. Thus, we think this family may have a previously undescribed form of autosomal dominant type II distal arthrogryposis.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / classification
  • Abnormalities, Multiple / diagnostic imaging
  • Abnormalities, Multiple / genetics*
  • Adult
  • Arthrogryposis / classification
  • Arthrogryposis / diagnostic imaging
  • Arthrogryposis / genetics*
  • Facial Bones / abnormalities*
  • Female
  • Genes, Dominant
  • Humans
  • Infant, Newborn
  • Male
  • Pedigree
  • Radiography
  • Skull / abnormalities*