Pediatric Radiology

, Volume 15, Issue 3, pp 209–210 | Cite as

Short fourth metacarpal in homocystinuria

  • O. Tamburrini
  • A. Bartolomeo-De Iuri
  • G. Andria
  • P. Strisciuglio
  • E. Del Giudice
Short Reports

Abstract

Homocystinuria due to cystathionine synthase deficiency is an autosomal recessive multisystem disease which affects the eye, the cardiovascular system, the central nervous system, the skeleton and occasionally other organs. Archibald's metacarpal sign and Kosowicz's phalangeal sign were evaluated in 11 patients with homocystinuria. A short fourth metacarpal was demonstrated in four patients. Our study represents, to our knowledge, the first systematic evaluation of these skeletal signs in a rather large group of homocystinuric patients.

Keywords

Public Health Nervous System Central Nervous System Cardiovascular System Systematic Evaluation 

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Copyright information

© Springer-Verlag 1985

Authors and Affiliations

  • O. Tamburrini
    • 1
    • 3
  • A. Bartolomeo-De Iuri
    • 1
  • G. Andria
    • 2
  • P. Strisciuglio
    • 2
  • E. Del Giudice
    • 2
  1. 1.Department of RadiologyUniversity of NaplesItaly
  2. 2.Department of Pediatrics, 2nd Faculty of Medicine and SurgeryUniversity of NaplesItaly
  3. 3.II Facoltà di Medicina e ChirurgiaIstituto di Scienze Radiologiche (I cattedra)NapoliItaly

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