Duane syndrome and congenital upper-limb anomalies. A familial occurrence

Arch Neurol. 1977 Mar;34(3):174-9. doi: 10.1001/archneur.1977.00500150060012.

Abstract

We report a family in which five members in three generations have been afflicted with Duane syndrome. Four of the five members also have congenital hypoplasia of the thenar eminence. One also was afflicted with Hirschsprung disease and another was born deaf. A sixth member, who does not have Duane syndrome, is afflicted with a more extensive malformation of the upper extremities and unilateral deafness. We present a discussion of Duane syndrome and its association with other congenital anomalies. Although some members of this family presented in this report show features that are similar to the Holt-Oram syndrome, Wildervanck's syndrome, and others reported in the literature, there are several unique features about this family that we thought were worth reporting.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Duane Retraction Syndrome / complications*
  • Duane Retraction Syndrome / genetics
  • Female
  • Hand / diagnostic imaging
  • Hand Deformities, Congenital*
  • Humans
  • Middle Aged
  • Ophthalmoplegia / complications*
  • Pedigree
  • Radiography