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When fingers point to the diagnosis
  1. Andrea Trombetta1,
  2. Andrea Magnolato2,
  3. Irene Bruno2,
  4. Ingrid Rabach2,
  5. Flora Maria Murru3,
  6. Flavio Faletra4
  1. 1 Department of Medicine, Surgery and Health Sciences, University of Trieste, Trieste, Italy
  2. 2 Pediatric Department, Institute for Maternal and Child Health - IRCCS “Burlo Garofolo”, Trieste, Italy
  3. 3 Pediatric Radiology, Institute for Maternal and Child Health - IRCCS “Burlo Garofolo”, Trieste, Italy
  4. 4 Genetics, Institute for Maternal and Child Health - IRCCS “Burlo Garofolo”, Trieste, Italy
  1. Correspondence to Dr Andrea Trombetta, Department of Medicine, Surgery and Health Sciences, University of Trieste, 34127 Trieste, Italy; andreamer91{at}live.it

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A 10-year-old child was referred with bilateral curving and bending of the index fingers noted from birth. His previous history included astigmatism and left knee retraction resulting in flexion deformity since he was 3 years old. Paediatricians should consider distal arthrogryposis type 5D (DA5D) in children with a family history of clino-camptodactyly and articular retraction.

His physical examination revealed clubfoot hypoplasia of the index fingers, adducted thumbs and …

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Footnotes

  • Contributors AT wrote the first draft of the manuscript. AM, FF, IB and IR followed clinically the patient. Radiologic images were acquired from FMM. AM made the revision of the manuscript. FF critically revised the manuscript and gave final approval.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Patient consent for publication Obtained.

  • Provenance and peer review Not commissioned; internally peer reviewed.

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