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Related Experiment Videos

Multiple trigger fingers associated with geleophysic dysplasia.

Yoshito Matsui1, Hidehiko Kawabata, Natsuo Yasui

  • 1Department of Orthopaedic Surgery, Osaka University Medical School, Suita, Japan. ymatsui@sb4.so-net.ne.jp

Archives of Orthopaedic and Trauma Surgery
|July 24, 2002
PubMed
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Geleophysic dysplasia, a rare genetic disorder, was associated with progressive, multiple trigger fingers in an infant. This presentation differs from typical infantile trigger thumb, often occurring without underlying conditions.

Area of Science:

  • Medical Genetics
  • Pediatric Orthopedics
  • Rare Diseases

Background:

  • Geleophysic dysplasia (MIM 231050) is a rare skeletal dysplasia characterized by short stature and distinctive facial features.
  • Trigger finger (stenosing tenosynovitis) is common in infants but typically isolated and not associated with underlying genetic disorders.

Observation:

  • This report details an infant diagnosed with geleophysic dysplasia.
  • The infant presented with the development of multiple, progressive trigger fingers.
  • This manifestation was noted to be distinct from the generally isolated trigger thumb seen in healthy infants.

Findings:

  • The occurrence of multiple, progressive trigger fingers in an infant with geleophysic dysplasia is a novel observation.
  • This suggests a potential association between geleophysic dysplasia and a predisposition to stenosing tenosynovitis affecting multiple digits.

Related Experiment Videos

  • The progressive nature of the trigger fingers in this case highlights a potential complication linked to the underlying metabolic or genetic defect.

    • Implications:

    • This finding expands the known clinical spectrum of geleophysic dysplasia.
    • It may prompt earlier recognition and investigation of skeletal dysplasias in infants presenting with unusual or multiple trigger digits.
    • Further research is warranted to elucidate the pathogenic mechanisms linking geleophysic dysplasia to stenosing tenosynovitis.