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
Insights
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.
- 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.
Abstract:
We report an infant with geleophysic dysplasia (MIM 231050) who developed multiple trigger fingers. The condition was progressive and distinct from trigger thumb, which is generally seen in infants without any underlying metabolic disease.
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