European Journal of Pediatrics

, Volume 141, Issue 2, pp 122–126

Adducted thumb syndrome

Report of a new case and a diagnostic approach


  • J. Kunze
    • Institute of Human GeneticsFree University of Berlin
    • Kinderklinik (KAVH)
  • W. Park
    • Kinderklinik (KAVH)
  • K. -H. Hansen
    • Kinderklinik (KAVH)
  • F. Hanefeld
    • Kinderklinik (KAVH)
Case Reports

DOI: 10.1007/BF00496805

Cite this article as:
Kunze, J., Park, W., Hansen, K.-. et al. Eur J Pediatr (1983) 141: 122. doi:10.1007/BF00496805


We report on a female newborn baby with a “myopathic” stiff face, open mouth, high-arched palate, microgenia, generalized muscular hypotonia, limited extension of elbows, wrists and knees, flexed adducted thumbs, velopharyngeal insufficiency, and hypertrichosis. Death occurred at 3 months due to respiratory insufficiency. Muscular biopsy revealed myopathic abnormalities.

Key words

Adducted thumb syndromeCongenital myopathy

Copyright information

© Springer-Verlag 1983