Case Reports

European Journal of Pediatrics

, Volume 141, Issue 2, pp 122-126

First online:

Adducted thumb syndrome

Report of a new case and a diagnostic approach
  • J. KunzeAffiliated withInstitute of Human Genetics, Free University of BerlinKinderklinik (KAVH)
  • , W. ParkAffiliated withKinderklinik (KAVH)
  • , K. -H. HansenAffiliated withKinderklinik (KAVH)
  • , F. HanefeldAffiliated withKinderklinik (KAVH)

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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 syndrome Congenital myopathy