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


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.


Public Health Nervous System Central Nervous System Cardiovascular System Systematic Evaluation 
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  1. 1.
    Mc Kusick VA, Hall JC, Char F (1971) The clinical and genetic characteristics of homocystinuria. In: Carson NAJ, Raine DN Inherited disorders of sulphur metabolism. Churchill Livingstone, EdinburghGoogle Scholar
  2. 2.
    Brenton DP, Dow CJ, James JIP, Hay LR, Wynne-Davies R (1972) Homocystinuria and Marfan's syndrome. J Bone Jt Surg 54 B: 277Google Scholar
  3. 3.
    Gaudier B, Remy J, Nuyts J-P, Caron-Poitreau Ch, Bombart E, Foissac-Gegoux M.-Ch (1969) Etude radiologique des signes osseux de l'homocystinurie. Arch Fr Pediatr 26: 963PubMedGoogle Scholar
  4. 4.
    MacCarthy JMT, Carey MC (1968) Bone changes in homocystinuria. Clin Radiol 19: 128CrossRefPubMedGoogle Scholar
  5. 5.
    Morreels CL, Fletcher BD, Weilbaecher RG, Dorst JP (1968) The roentgenographic features of homocystinuria. Radiology 90: 1150PubMedGoogle Scholar
  6. 6.
    Schedewie H, Willich E, Gröbe H, Schmidt H, Müller KM (1973) Skeletal findings in homocystinuria. A collaborative study. Pediatr Radiol 1: 12CrossRefPubMedGoogle Scholar
  7. 7.
    Del Giudice E, Rinaldi E, Andria G (1983) L'omocistinuria da deficit di cistationina sintasi. Riv Ital Pediatr 9: 165Google Scholar
  8. 8.
    Archibald RM, Finey N, De Vito F (1959) Endocrine significance of short metacarpals. J Clin Endocrinol 19: 1312Google Scholar
  9. 9.
    Kosowicz J (1965) The roentgen appearence of the hand and wrist in gonadal dysgenesis. Am J Roentgenol 93: 354Google Scholar
  10. 10.
    Sinclair RJG, Kitchen AH, Turner RWD (1960) The Marfan syndrome. Quart J Med 35: 325Google Scholar
  11. 11.
    Joseph MC, Meadow SR (1969) The metacarpal index of infants. Arch Dis Child 44: 515PubMedGoogle Scholar
  12. 12.
    Poznansky AK (1968) The hand in radiologic diagnosis. WB Saunders, PhiladelphiaGoogle Scholar

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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