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Acromesomelic dwarfism: Description of a patient and comparison with previously reported cases

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Summary

A woman is described who has a severe bone dysplasia confined to the limbs. The degree of involvement is more marked in the distal bones. Her forearms and legs are short; the fibulae are represented by distal triangular remnants; the metacarpals are short, several phalanges in the fingers are absent; and the toes are represented by “ball-like” remnants containing a single bone. The findings in our patient are compared to previously reported cases of acromesomelic dwarfism.

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References

  • Bailey, J. A.: Acromesomelic syndromes. In: Disproportionate short stature, pp. 215–216. Philadelphia: Saunders 1973a

    Google Scholar 

  • Bailey, J. A.: Acromesomelic syndromes. In: Disporportionate short stature, Philadelphia: Saunders p. 269. 1973b

    Google Scholar 

  • Beighton, P.: Autosomal recessive inheritance in the mesomelic dwarfism of Campailla and Martinelli. Clin. Genet. 5, 363–367 (1974)

    Google Scholar 

  • Campailla, E., Martinelli, B.: Deficit staturale con micromesomelia. Minerva orthop. 22, 180–184 (1971)

    Google Scholar 

  • DuPan, C. M.: Absence congénitale du péroné sans déformation du tibia. Curieuses déformations congénitales des mains. Rev. Orthop. 11, 227–234 (1924)

    Google Scholar 

  • Freire-Maia, N., Lenz, W. D.: Discussion. Birth Defects: Original Article Series V, No. 4, 14–16 (1969)

  • Garcia-Castro, J. M., Perez-Comas, A.: Nonlethal achondrogenesis (Grebe-Quelce-Salgado type) in two Puerto Rican sibships. J. Pediat. 87, 948–952 (1975)

    Google Scholar 

  • Grebe, H.: Die Achondrogenesis. Ein einfach recessives Erbmerkmal. Foila hered. path. (Milano) 2, 23–28 (1952)

    Google Scholar 

  • Grebe, H.: Chondrodysplasie. Analecta Genetica (Inst. Gregorio Mendel, Rome) 2, 297–300 (1955)

    Google Scholar 

  • Maroteaux, P.: Acromesomelic dwarfism. Progr. Pediat. Radiol., Vol. 4, Intrinsic diseases of bones, pp. 563–565. Basel: Karger 1973

    Google Scholar 

  • Maroteaux, P., Martinelli, B., Campailla, E.: Nanisme acromesomelique. Presse méd. 79, 1839–1842 (1971)

    Google Scholar 

  • Quelce-Salgado, A.: A new type of dwarfism with various bone aplasias and hypoplasias of the extremities. Acta genet. (Basel) 14, 63–66 (1964)

    Google Scholar 

  • Rimoin, D. L.: The chondrodystrophies. In: Advances in human genetics (eds. H. Harris, K. Hirschhorm), Vol. 5, p. 84. New York: Plenum Press 1975

    Google Scholar 

  • Temtamy, S., McKusick, V. A.: Synopsis of hand malformations with particular emphasis on genetic factors. Birth Defects: Original Article Series V, No. 3, 125–184 (1969)

    Google Scholar 

  • Young, L. W., Wood, B. P.: Nievergelt syndrome (Mesomelic dwarfism — type Nievergelt). Birth Defects: Original Article Series X, No. 5, 81–86 (1974)

    Google Scholar 

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Authors and Affiliations

  1. Department of Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada

    Alasdair G. W. Hunter & Margaret W. Thompson

  2. Department of Genetics, Health Sciences Centre Children's Centre, 685 Bannatyne Avenue, R3E 0W1, Winnipeg, Manitoba, Canada

    Alasdair G. W. Hunter

Authors
  1. Alasdair G. W. Hunter
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  2. Margaret W. Thompson
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Hunter, A.G.W., Thompson, M.W. Acromesomelic dwarfism: Description of a patient and comparison with previously reported cases. Hum Genet 34, 107–113 (1976). https://doi.org/10.1007/BF00284447

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  • DOI: https://doi.org/10.1007/BF00284447

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