Pathology
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Fetopathology and developmental pathology of the embryo and fetus
Marta Ježová, Josef Feit et al.
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+ Introduction
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+ Atlas of fetal pathology
Radial ray defects
Introduction

Anomalies of radius and thenar

  • Radial agenesis (complete, partial)
  • Radial hypoplasia
  • Triphalangeal thumb
  • Thumb agenesis
  • Thumb and thener hypoplasia
  • Anomalies of the thumb
  • Preaxial polydactyly
Clinical signs

Radial ray anomalies (radial agenesis and hypoplasia in particular) are frequently syndromic: trisomy 18, Holt-Oram, TAR syndrome, Fanconi anemia, VACTERL.

Macroscopic appearance

The forearm is shortened and the wrist is radially deviated in radial aplasia/hypoplasia. The thumb is either absent or present as a rudimentary bud or nonfuncioning structure..The term radial club hand is also used.

Triphalangeal thumb  —  long thumb with three phalanges, either opposable or non-opposable because in one plane with the other fingers.