Adducted thumb syndrome. Report of a new case and a diagnostic approach

Eur J Pediatr. 1983 Dec;141(2):122-6. 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.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / complications
  • Female
  • Humans
  • Infant
  • Infant, Newborn
  • Muscle Hypotonia / complications
  • Muscular Diseases / congenital
  • Respiratory Insufficiency / complications
  • Syndrome
  • Thumb / abnormalities*