The disease was first described by Conradi (1914), who reported on a 3-week-old chondrodystrophic girl with shortness of the right lower extremity (3 cm), saddle nose, bilateral cataract, and calcific densities in the epiphyses observed in the roentgenograms. Conradi gave a detailed description of the histological changes and concluded that it was a case of Chondrodystrophia foetalis hypoplastica, and that the epiphyseal densities were to be interpreted as “ein vorzeitiges Auftreten von Knochenkernen, zum Teil allerdings so sehr verfrüht, wie das wohl kaum bisher beobachtet worden ist.”


Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.


  1. Allansmith, M., and E. Senz: Chondrodystrophia congenita punctata (Conradi’s disease). Amer. J. Dis. Child. 100, 109–116 (1960).PubMedGoogle Scholar
  2. Armaly, M. F.: Ocular involvement in chondrodystrophia calcificans congenita punctata. Arch. Ophthal. 57, 491–502 (1957).CrossRefGoogle Scholar
  3. Azemar, J. C.: Displasia epifisaria punteada. Acta ibér. radiol.-cancer. 3, 189–199 (1954).Google Scholar
  4. Bateman, D.: Two cases, and specimens from a third case, of punctate epiphyseal dysplasia. Proc. roy. Soc. Med. 29, 745–747 (1936).PubMedGoogle Scholar
  5. Bergstedt, J., u. K.-H. Karlén: Chondroangiopathia calcarea s. punctata (Chondrodystrophia calcificans congenita). Mschr. Kinderheilk. 102, 347–349 (1954).PubMedGoogle Scholar
  6. Berrey, B. H., and C. H. Kimball: Chondrodystrophia calcificans congenita. J. Pediat. 42, 474–477 (1953).PubMedCrossRefGoogle Scholar
  7. Biondetti, P., e K. Zennaro: Chondroangiopathia calcarea seu punctata. Radiologia (Koma) 9, 325–352 (1953).Google Scholar
  8. Birsner, J. W., and R. Cohen: Chondrodystrophia calcificans congenita (Dysplasia epiphysialis punctata). J. La med. Soc. 105, 114–115 (1953).Google Scholar
  9. Blatt, M. L., M. Zeldes and J. Goodfriend: Epiphysial dysgenesis associated with cretinism in a premature infant. Amer. J. Dis. Child. 67, 480–484 (1944).Google Scholar
  10. Bloxsom, A., and R. J. Johnston: Calcinosis universalis with unusual features. Amer. J. Dis. Child. 56, 103–109 (1938).Google Scholar
  11. Borovsky, M. P., and J. Arendt: Chondrodystrophia calcificans congenita. J. Pediat. 24, 558–567 (1944).CrossRefGoogle Scholar
  12. Bossi, R., and G. Pisani: Stippled epiphyses in a newborn infant without micromelia. Brit. J. Radiol. 27, 449–452 (1954).PubMedCrossRefGoogle Scholar
  13. Briggs, J. N., J. L. Emery and R. S. Illingworth: Congenital stippled epiphyses. Arch. Dis. Childh. 28, 209–212 (1953).PubMedCrossRefGoogle Scholar
  14. Brogdon, B. G., and N. E. Crow: Chondrodystrophia calcificans congenita. Amer. J. Roentgenol. 80, 443–448 (1958).PubMedGoogle Scholar
  15. Brychnáč, V.: Chondrodystrophia calcificans congenita. Acta Chir. orthop. Traum. čech. 23, 328–331 (1956).PubMedGoogle Scholar
  16. Burckhardt, E.: Ein Fall von Chondrodystrophia fetalis calcarea. Schweiz. med. Wschr. 1938, 330–334.Google Scholar
  17. Burton, S. F., and H. W. Devine: Chondroangiopathia calcarea seu punctata. Amer. J. Roentgenol. 88, 470–475 (1962).PubMedGoogle Scholar
  18. Buxton, S. J. D.: A dwarf with stippled epiphyses. Proc. roy. Soc. Med. 23, 1329–1331 (1930).PubMedGoogle Scholar
  19. Caffey, J.: Pediatric x-ray diagnosis. Chicago: Year Book Publishers Inc. 1956.Google Scholar
  20. Cocchi, U.: Chondroangiopathia calcarea seu punctata. In Lehrbuch der Röntgendiagnostik by Schinz et al.. Bd. I, Teil I. Stuttgart: Georg Thieme 1950.Google Scholar
  21. Cohen, J., G. Currarino, and E. B. D. Neuhauser: A significant variant in the ossification centers of the vertebral bodies. Amer. J. Roentgenol. 76, 469–475 (1956).PubMedGoogle Scholar
  22. Conradi, E.: Vorzeitiges Auftreten von Knochen- und eigenartigen Verkalkungskernen bei Chondrodystrophia foetalis hypoplastica. Histologische und Röntgenuntersuchungen. Jb. Kinderheilk. 80, 86–97 (1914).Google Scholar
  23. Côté, P.-E.: Observations sur la chondrodysplasie épiphysaire (Maladie de Hunermann). Laval méd. 20, 481–489 (1955).PubMedGoogle Scholar
  24. Coughlin Jr., E. J., H. T. Guare and A. J. Moskovitz: Chondrodystrophia calcificans congenita. J. Bone Jt Surg. 32 A, 938–942 (1950).Google Scholar
  25. Curth, H. O.: Follicular atrophoderma and pseudopelade associated with chondrodystrophia calcificans congenita. J. invest. Derm. 13, 233–247 (1949).PubMedGoogle Scholar
  26. Delobel, L.: Chondrodystrophia calcificans congenita. Maandschr. Kindergeneesk. 29, 277–300 (1961).PubMedGoogle Scholar
  27. Dietrich, A.: Vergleichende Untersuchungen über Chondrodystrophie und Osteogenesis imperfecta. Festschr. d. Akad. f. prakt. Med., Köln 1915.Google Scholar
  28. ——— Die Knorpelverknöcherungsstörung (Chondrodystrophie). In Henke-Lübarsch, Handbuch der speziellen pathologischen Anatomie und Histologie, Bd. IX, 1. Berlin: Springer 1929.Google Scholar
  29. Ebel, D., u. U. Keuth: Extreme Mikromelie bei Chondrodysplasia calcificans congenita. Zugleich ein Beitrag zur Ätiologie. Z. Kinderheilk. 82, 59–63 (1959).PubMedCrossRefGoogle Scholar
  30. Fairbank, H. A. T.: Some general diseases of the skeleton. Brit. J. Surg. 15, 120–142 (1927/28).CrossRefGoogle Scholar
  31. ——— Generalized diseases of the skeleton. Proc. roy. Soc. Med. 28, 1611–1619 (1935).Google Scholar
  32. ——— Dysplasia epiphysialis punctata. J. Bone Jt Surg. 31 B, 114–122 (1949).Google Scholar
  33. ——— An atlas of general affections of the skeleton. Edinburgh a. London: E. & S. Livingstone Ltd. 1951.Google Scholar
  34. Fanconi, G.: Über generalisierte Knochenerkrankungen im Kindesalter. Helv. paediat. Acta 2, 1–32 (1947).Google Scholar
  35. Figueroa, J. M., y L. Rangel: Un caso de condrodistrofia calcificante congenita. Bol. méd. Hosp. infant. (Méx.) 13, 819–823 (1956).Google Scholar
  36. Ford, G. D., M. Scheider and J. R. Brandon: Congenital stippled epiphyses. Pediatrics 8, 380–392 (1951).PubMedGoogle Scholar
  37. Forni, S.: Cataracte congénitale familiale dans la chondrodystrophie calcificante (maladie des épiphyses pointillées). Ophthalmologica (Basel) 139, 322–329 (1960).CrossRefGoogle Scholar
  38. Frank, W. W., and M. B. Denny: Dysplasia epiphysialis punctata. J. Bone Jt Surg. 36 B, 118–122 (1954).Google Scholar
  39. Fraser, F. C., and J. B. Scriver: A hereditary factor in chondrodystrophia calcificans congenita. New Engl. J. Med. 250, 272–277 (1954).PubMedCrossRefGoogle Scholar
  40. Freudenberg, E., F. Roullet u. R. Nicole: Kongenitale Infektion mit Coxsackie-Virus. Ann. paediat. (Basel) 178, 150–161 (1952).Google Scholar
  41. Geyman, M. J.: An unusual manifestation of epiphyseal and joint pathology in a new-born infant. Amer. J. Roentgenol. 26, 868–870 (1931).Google Scholar
  42. Gørtz, G.: Chondrodystrophia hypoplastica calcinosa. Nord. Med. 21, 375 (1944).Google Scholar
  43. Hässler, E., u. G. Schallock: Chondrodystrophia calcificans. Mschr. Kinderheilk. 82, 133–157 (1940).Google Scholar
  44. Harris, H. A.: Bone growth in health and disease. London 1933. Cit. by Briggs, Emery and Illingworth.Google Scholar
  45. Haynes, E. R., and Wm. F. Wangner: Chondroangiopathia calcarea seu punctata. Radiology 57, 547–550 (1951).PubMedGoogle Scholar
  46. Hilliard, C.: A case of chondro-osseous dystrophy with punctate epiphyseal dysplasia. Brit. J. Radiol. 16, 144–146 (1943).CrossRefGoogle Scholar
  47. Hünermann, C.: Chondrodystrophia calcificans congenita als abortive Form der Chondrodystrophie. Z. Kinderheilk. 51, 1–19 (1931).CrossRefGoogle Scholar
  48. Ingelrans, P., et M. Lacheretz: A propos d’un cas de chondrodystrophie épiphysaire. Rev. Chir. orthop. 39, 242–248 (1953).PubMedGoogle Scholar
  49. Jarrousse, J., J. P. Kerneis, M. F. Lerat, F. Hervouet et L. Cavellat: Un cas de maladie congénitale des épiphyses pointillées. Bull. Féd. Soc. Gynéc. Obstét. franç. 10, 203–205 (1958).Google Scholar
  50. ——— M. Lerat, A. Sorin, J. P. Kerneis, F. Hervouet et L. Cavellat: A propos d’un cas de maladie congénitale des épiphyses pointillées. J. Radiol. Électrol. 40, 99–100 (1959).Google Scholar
  51. Jeune, M., F. Larbre, R. Carron et I. Couette: La maladie congénitale des épiphyses pointillées ou calcinose foetale épiphysaire chondrodystrophiante. Arch. franç. Pédiat. 10, 914–942 (1953).PubMedGoogle Scholar
  52. Jolly, H. (for R. Lightwood): Punctate epiphyseal dysplasia. Proc. roy. Soc. Med. 44, 227 (1951).Google Scholar
  53. Jorup, S.: Fall von Chondrodystrophia congenita calcificans. Acta radiol. (Stockh.) 25, 580–586 (1944).CrossRefGoogle Scholar
  54. Josephson, B. M., and M. D. Oriatti: Chondrodystrophia calcificans congenita. Report of a case and review of the literature. Pediatrics 28, 425–435 (1961).PubMedGoogle Scholar
  55. Käser, H.: Chondrodysplasia calcificans congenita. Schweiz, med. Wschr. 1957, 676–680.Google Scholar
  56. Kampf, E.: Chondrodystrophia calcificans congenita. Z. Kinderheilk. 61, 124–126 (1939).CrossRefGoogle Scholar
  57. Karlen, A. G., and J. A. P. Cameron: Dysplasia epiphysialis punctata. J. Bone Jt Surg. 39 B, 293–301 (1957).Google Scholar
  58. Karlen, K.-H.: A case of congenital chondrodystrophia calcificans. Acta paediat. (Uppsala) 42, 391 (1953).Google Scholar
  59. Kåss, A.: Chondrodystrophia calcificans congenita punctata (“Stippled epiphyses”). Acta paediat. (Uppsala) 44, 134 (1955).CrossRefGoogle Scholar
  60. Kremens, S. V., T. Orloff, and E. Richman: Congenital calcific chondrodystrophy: A case report with consideration of etiology. J. Einstein Med. Cent. 3, 137–144 (1955).PubMedGoogle Scholar
  61. Kucsko, L.: Zur Frage der formalen Genese der sogenannten „Chondroangiopathia calcarea s. punctata“ (Uehlinger-Cocchi). Wien. klin. Wschr. 1958, 308–311.Google Scholar
  62. Kwerch, H.: Zur Kenntnis der Sonderformen der Chondrodysplasia (Chondrodystrophia) foetalis, im besonderen der Chondrodysplasia calcificans congenita. Öst. Z. Kinderheilk. 4, 165–180 (1950).Google Scholar
  63. Laokner, J.: Zur Röntgendiagnostik polytoper enchondraler Ossifikationsstörungen, bes. der Dysostosis multiplex Pfaundler-Hurler, der Knochenchondromatose und der Chondroangiopathia calcarea. Fortschr. Röntgenstr. 80, 165–180 (1954).CrossRefGoogle Scholar
  64. Lang, F. J., U. R. Priesel: Über Chondrodysplasia (Chondrodystrophia) calcificans congenita. Forschungen und Forscher der Tiroler Ärzteschule, Innsbruck 1945/1947.Google Scholar
  65. Lange, C. de, U. T. Janssen: Chondrodystrophia calcificans congenita als onderdeel van een reeks aangeboren afwijkingen. Maandschr. Kindergeneesk. 17, 67–74 (1949).Google Scholar
  66. Licht, J., and M. Jesiotr: Chondroangiopathia calcarea seu punctata (Chondrodystrophia calcificans congenita): An atypical stationary form of the disease. Amer. J. Roentgenol. 78, 492–498 (1957).PubMedGoogle Scholar
  67. Liess, G.: Zur Chondrodystrophia calcificans congenita. Fortschr. Röntgenstr. 81, 61–65 (1954).CrossRefGoogle Scholar
  68. Lightwood, R. C. (for H. Thursfield): Congenital deformities with stippled epiphyses and congenital cataract. Proc. roy. Soc. Med. 24, 564–566 (1930/31).Google Scholar
  69. De Lorimier, A. A., H. G. Moehring and J. R. Hannan: Clinical roentgenology. Springfield (ILL.): Ch. Thomas 1954.Google Scholar
  70. Lund, E.: Metaphyseal dyscrasia. Proc. roy. Soc. Med. 36, 381 (1942/43).Google Scholar
  71. Maitland, D. G.: Punctate epiphyseal dysplasia occuring in two members of the same family. Brit. J. Radiol. 12, 91–93 (1939).CrossRefGoogle Scholar
  72. Marquardt, W.: Die Klinik und Röntgenologie der angeborenen enchondralen Verknöcherungsstörungen. Fortschr. Röntgenstr. 71, 794–827 (1949).CrossRefGoogle Scholar
  73. McCullough, J. A. L., and C. G. Sutherland: Epiphyseal dysplasia puncticularis (stippled epiphyses). Report of a case not associated with hypothyroidism. Radiology 34, 131–135 (1940).Google Scholar
  74. Melnick, J. C.: Chondrodystrophia calcificans congenita. Amer. J. Dis. Child. 110, 218–225 (1965).PubMedGoogle Scholar
  75. Menichini, G., et L. Deriu: La condroangiopatia calcarea o punctata (contributo clinico-radio-logico). Minerva pediat. 11, 407–415 (1959).PubMedGoogle Scholar
  76. Miescher, G.: Atypische Chondrodystrophie, Typus Morquio, kombiniert mit follikulärer Atrophodermie. Dermatologica (Basel) 89, 38–40 (1944).CrossRefGoogle Scholar
  77. Mørch, E. T.: Discussion on the paper of Gørtz. Nord. Med. 21, 375 (1944).Google Scholar
  78. Mosekilde, E.:“Stippled epiphyses” in the newborn and in infants. Acta radiol. (Stockh.) 37, 291–307 (1952).CrossRefGoogle Scholar
  79. Nabarro, S.: Calcification of the laryngeal and tracheal cartilages associated with congenital stridor in an infant. Arch. Dis. Child. 27, 185–186 (1952).PubMedCrossRefGoogle Scholar
  80. Oehlecker, G.: Zur Chondrodystrophia calcificans congenita. Med. Klin. 1955, 1294–1296.Google Scholar
  81. Paparella-Treccia, R., e A. Rampoldi: La condrodistrofia calcificante congenita. Ortop. Traum. Appar. mot. 16, 75 (1948). Cit. by Menichini et Deriu.Google Scholar
  82. Paufique, L., et R. Étienne: Cataracte de la calcinose foetale polyépiphysaire chondrodystrophiante (maladies des épiphyses pointillées). Bull. Soc. Ophtal. Paris 67, 42–44 (1954).Google Scholar
  83. Paul, L. W.: Punctate epiphyseal dysplasia (Chondrodystrophia calcificans congenita): Report of case with nine year period of observation. Amer. J. Roentgenol. 71, 941–946 (1954).PubMedGoogle Scholar
  84. Phillips, L. I.: Chondrodystrophia calcificans congenita. N.Z. med. J. 56, 22–27 (1957).PubMedGoogle Scholar
  85. Putschar, W. G. J.: Chondrodystrophia calcificans congenita. Bull. Hosp. Jt Dis. (N.Y.) 12, 514–527 (1951).Google Scholar
  86. Raap, G.: Chondrodystropliia calcificans congenita. Amer. J. Roentgenol. 49, 77–82 (1943).Google Scholar
  87. Reilly, W. A., and F. S. Smyth: Stippled epiphyses with congenital hypothyroidism (Cretinoid epiphyseal dysgenesis). Amer. J. Roentgenol. 40, 675–681 (1938).Google Scholar
  88. Resnick, E.: Epiphyseal dysplasia punctata in a mother and identical male twins. J. Bone Jt Surg. 25, 461–468 (1943).Google Scholar
  89. Russo, P. E., and C. G. Coin: Calcification of the hyoid, thyroid and tracheal cartilages in infancy. Amer. J. Roentgenol. 80, 440–442 (1958).PubMedGoogle Scholar
  90. Salisachs, L. G., J. C. Corominas y A. D. Clarós: Condrodistrofia calcificans congénita. Acta pediát. esp. 15, 197–202 (1957).Google Scholar
  91. Sardi, A.: Un caso di condrodistrofia punctata congenita. Minerva ortop. 7, 8–11 (1956).PubMedGoogle Scholar
  92. Savignac, E.M.: Chondrodystrophia calcificans congenita. Radiology 58, 415–420 (1952).PubMedGoogle Scholar
  93. Schmölder, F. W.: Chondrodystrophia calcificans congenita. Inaug.-Diss. Münster 1954.Google Scholar
  94. Schönenberg, H., u. G. Schallock: Zur Kenntnis der Chondrodysplasia calcificans congenita und ihrer Beziehungen zur Chondrodysplasia foetalis. Ann, paediat. (Basel) 180, 129–162 (1953).Google Scholar
  95. Schneidman, H. M., and A. H. Snyder: Incontinentia pigmenti. Arch. Derm. 77, 144 (1958).Google Scholar
  96. Scott, L. G.: Dysplasia epiphysealis punctata. Proc. roy. Soc. Med. 45, 17 (1952).Google Scholar
  97. Sears, W. G.: Dwarfism with stippled epiphyses. Brit. J. Child. Dis. 28, 290–295 (1931).Google Scholar
  98. Selakovich, W. G., and J. W. White: Chondrodystrophia calcificans congenita. J. Bone Jt Surg. 37 A, 1271–1275 (1955).Google Scholar
  99. Sheach, J. M., and J. H. Middlemiss: Dysplasia epiphysialis punctata. Brit. J. Radiol. 29, 111–113 (1956).PubMedCrossRefGoogle Scholar
  100. Silverman, F. N.: Dysplasies épiphysaires: Entité protéiforme. Ann. Radiol. 4, 833–867 (1961).PubMedGoogle Scholar
  101. Stopp, H.: Kasuistischer Beitrag zur Chondrodystrophia calcificans congenita. Z. ärztl. Fortbild. 51, 196–199 (1957).Google Scholar
  102. Stüve, A.: Zur Chondrodystrophia calcificans congenita. Kinderärztl. Prax. 21, 314–317 (1953).PubMedGoogle Scholar
  103. Swoboda, W.: Beitrag zur Chondrodystrophia calcificans congenita. (Ein abortiver Fall dieser Erkrankung.) Ann. paediat. (Basel) 175, 322–342 (1950).Google Scholar
  104. ——— Chondrodystrophia calcificans congenita. Mschr. Kinderheilk. 100, 444–447 (1952).Google Scholar
  105. Tesarz, Z., u. T. Kaniowski: Przypadek Chondrodystrophia calcificans congenita. Pediat. pol. 28, 409–416 (1953).PubMedGoogle Scholar
  106. Thamdrup, E., and B. Zachau-Christiansen: Dysplasia Epiphysialis Punctata. Acta paediat. (Uppsala) 51, 589–593 (1962).CrossRefGoogle Scholar
  107. Tisdall, F. F., and I. H. Erb: Report of two cases with unusual calcareous deposits. Amer. J. Dis. Child. 27, 28–38 (1924).Google Scholar
  108. Toni, G. de, e F. Papio: La condrodistrofia congenita calcificante: primo contributo casistico italiano. Policlin. infant. 16, 3 (1948). Cit. by Menichini et Deriu.Google Scholar
  109. Ugland, O. M.: Chondrodystrophia calcificans congenita. Nord. Med. 59, 194–195 (1958).PubMedGoogle Scholar
  110. Vinke, T. H., and F. P. Duffy: Chondrodystrophia calcificans congenita. J. Bone Jt Surg. 29, 509–514 (1947).Google Scholar
  111. Vychytil, O.: Rare form of chondrodystrophy. Čas. Lék. čes. 1931, 1785–1791. Cit. by Hässler u. Schallock.Google Scholar
  112. Weber, A.: Zur Frage der Chondrodysplasia calcificans congenita. Helv. paediat. Acta 13, 228–238 (1958).PubMedGoogle Scholar
  113. Wenzl, J. E., J. C. Ivins, and G. B. Stickler: Punctate epiphyseal dysplasia, another cause of leg length inequality. J. Pediat. 59, 390–393 (1961).PubMedCrossRefGoogle Scholar
  114. Wiedemann, H. R.: Ausgedehnte und allgemeine erblich bedingte Bildungs- und Wachstumsfehler des Knochengerüstes. Mschr. Kinderheilk. 102, 136–148 (1954).PubMedGoogle Scholar
  115. Wilkins, L.: Epiphyseal dysgenesis associated with hypothyroidism. Amer. J. Dis. Child. 61, 13–34 (1941).Google Scholar
  116. Wiskott, A.: Bestrahltes Ergosterin gegen Rachitis. Münch, med. Wschr. 1929II, 1430–1433.Google Scholar
  117. Yakovac, W. C.: Calcareous chondropathies in the newborn infant. Arch. Path. 57, 62–79 (1954).Google Scholar

Copyright information

© Springer-Verlag Berlin · Heidelberg 1968

Authors and Affiliations

  • E. Mosekilde

There are no affiliations available

Personalised recommendations