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SynopsisCodesLook ForDiagnostic PearlsDifferential Diagnosis & PitfallsBest TestsManagement PearlsTherapyReferences
Longitudinal deficiency of radius
Other Resources UpToDate PubMed

Longitudinal deficiency of radius

Contributors: Aabra Ahmed MD, Danielle Wilbur MD
Other Resources UpToDate PubMed

Synopsis

Causes / typical injury mechanism: Radial clubhand, also known as radial deficiency or radial dysplasia, is usually congenital. The etiology is uncertain but thought to be due to fibroblast growth factor deficiency due to issues with sonic hedgehog genes. Birth defects can be inherited, sporadic, or environmental.

Classic history and presentation: Classically, an infant presents with an abnormal or absent thumb and a radially angulated hand. This is bilateral in about half of cases; if unilateral, the defect is more likely to be on the right side.

Prevalence:
  • Sex / gender – 3:2 male-to-female ratio
Risk factors:
  • Genetic abnormalities (can be sporadic)
  • Drug exposure (such as thalidomide)
  • Intrauterine compression
Pathophysiology: The disruption of radioulnar growth in varying degrees leads to mild-to-severe deficits.

Grade / classification system: Bayne and Klug –
  • Type 1: mild hypoplasia of radius, growth plate present
  • Type 2: hypoplastic radius, no growth plate
  • Type 3: partial absence of radius
  • Type 4: complete absence of radius

Codes

ICD10CM:
Q71.40 – Longitudinal reduction defect of unspecified radius

SNOMEDCT:
61900003 – Longitudinal deficiency of radius

Look For

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Diagnostic Pearls

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Differential Diagnosis & Pitfalls

  • TAR syndrome
  • Fanconi anemia – associated with aplastic anemia
  • Holt-Oram syndrome
  • VACTERL association – vertebral anomalies, anal atresia, cardiac abnormalities, tracheoesophageal fistula, renal agenesis, and limb defects
  • VATER syndrome
  • Teratogen exposure

Best Tests

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Management Pearls

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Therapy

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References

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Last Reviewed:06/21/2023
Last Updated:06/22/2023
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Longitudinal deficiency of radius
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