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Related Experiment Videos

Triphalangeal thumb.

Q Qazi1, E G Kassner

  • 1Department of Pediatrics, State University of New York Health Sciences Center, Brooklyn 11203.

Journal of Medical Genetics
|August 1, 1988
PubMed
Summary
This summary is machine-generated.

Triphalangeal thumb (TPT) is a rare hand malformation with varied causes and presentations. It can be isolated or part of syndromes, aiding in diagnosis and genetic counseling.

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Area of Science:

  • Medical Genetics
  • Developmental Biology
  • Orthopedics

Background:

  • Triphalangeal thumb (TPT) is a rare congenital malformation with unclear origins.
  • It can manifest as an isolated defect or be associated with other limb or systemic abnormalities.
  • TPT presents in two functional forms: opposable and non-opposable.

Purpose of the Study:

  • To delineate the spectrum of Triphalangeal thumb (TPT) presentations.
  • To explore the genetic and syndromic associations of TPT.
  • To highlight the diagnostic utility of TPT as a clinical marker.

Main Methods:

  • Literature review of TPT cases and associated conditions.
  • Analysis of inheritance patterns for isolated and syndromic TPT.
  • Correlation of clinical and radiological findings with diagnoses.

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Main Results:

  • Isolated non-opposable TPT often follows autosomal dominant inheritance, while opposable TPT is typically sporadic.
  • TPT is linked to numerous hand/foot malformations with documented autosomal dominant inheritance.
  • Syndromic TPT is associated with radial hypoplasia, bone marrow dysfunction, congenital heart disease, lung anomalies, anorectal malformations, hearing loss, and intellectual disability.

Conclusions:

  • Triphalangeal thumb (TPT) is a significant indicator of underlying genetic conditions or developmental syndromes.
  • Recognizing TPT aids in accurate diagnosis, management, and genetic counseling for affected individuals and families.
  • TPT's association with diverse anomalies underscores its importance in comprehensive patient evaluation.