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Polytopic dystelephalangy of the fingers
1Division of Orthopaedic Surgery, Nishio Municipal Hospital, Aichi-ken, Japan.
Pediatric Radiology
|January 1, 1989
Summary
This study reports a rare case of polytopic dystelephalangy (Kirner deformity) affecting multiple fingers in an 11-year-old girl. The familial occurrence suggests a potential homozygous state for the dystelephalangy gene.
Area of Science:
- Genetics
- Orthopedics
- Pediatric Medicine
Background:
- Dystelephalangy, also known as Kirner deformity, is a congenital condition affecting finger development.
- Polytopic (multiple sites) involvement is uncommon, and familial cases suggest a genetic basis.
Observation:
- An 11-year-old female presented with dystelephalangy affecting the right middle, ring, and little fingers, and the left index through little fingers.
- The patient's parents, a sibling, and maternal grandfather also exhibited dystelephalangy, specifically affecting the little finger.
Findings:
- This represents the first reported case of polytopic dystelephalangy with this specific pattern of digital involvement.
- The observed familial pattern, with multiple affected relatives, strongly suggests a genetic etiology, potentially a homozygous state for the dystelephalangy gene.
Implications:
- This case expands the known clinical spectrum of dystelephalangy.
- Further research into the genetic underpinnings of dystelephalangy is warranted, particularly concerning homozygous mutations and their phenotypic expression.