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Diastrophische Dysplasie

Pränatale Diagnostik und histopathologische Befunde

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PerinatalMedizin

Abstract

The case report presents a 25-year-old woman who got pregnant twice in 1 year. Both pregnancies were terminated after ultrasound examination demonstrated limb abnormalities. Radiological and pathological examinations showed diastrophic dysplasia, a rare form of an osteochondrodysplasia with autosomal recessive inheritance. Here the histopathological findings in the cartilage and prenatal diagnosis by ultrasound are discussed.

Zusammenfassung

Berichtet wird der Fall einer 25jährigen Frau, die binnen eines Jahres 2mal schwanger wurde und bei der beide Schwangerschaften nach ultrasonographischem Nachweis von Skelettfehlbildungen unterbrochen wurden. Radiologische und pathologisch-anatomische Untersuchungen ergaben Merkmale einer diastrophischen Dysplasie, einer sehr seltenen autosomal rezessiv bedingten Osteochondrodysplasie. Im vorliegenden Fallbericht wird auf die Möglichkeit der pränatalen Diagnostik und auf die wenig bekannten histomorphologischen Knochenveränderungen eingegangen.

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Literatur

  1. Diab M, Wu JJ, Shapiro F, Eyre D (1994) Abnormality of Type IX Collagen in a patient with diastrophic dysplasia. Am J Med Gen 49:402–409

    Article  CAS  Google Scholar 

  2. Godbersen GS, Hosenfeld D, Pankau R (1990) Die diastrophische Dysplasie. HNO 38:256–258

    CAS  PubMed  Google Scholar 

  3. Gollop TR, Eigier A (1987) Brief clinical report: Prenatal ultrasound diagnosis of diastrophic dysplasia at 16 weeks. Am J Med Genet 27:321–324

    Article  CAS  PubMed  Google Scholar 

  4. Gustavson KH, Holmgren G, Jagell S, Jorulf H (1985) Lethal and non-lethal diastrophic dysplasia. Clin Genet 28:321–334

    Article  CAS  PubMed  Google Scholar 

  5. Hästbacka J, Chapelle A, Mahtani MM et al. (1994) The diastrophic dysplasia gene encodes a novel sulfate transporter: Positional cloning by fine-structure linkage disequilibrium mapping. Cell 78:1073–1087

    Article  PubMed  Google Scholar 

  6. Hästbacka J, Kaitila I, Sistonen P, Chapelle A (1990) Diastrophic dysplasia gene maps to the distal long arm of chromosome 5. Proc Natl Acad Sci USA 87:8056–8059

    Article  PubMed Central  PubMed  Google Scholar 

  7. Hästbacka J, Salonen R, Laurila P, Chapelle A, Kaitila I (1993) Prenatal diagnosis of diastrophic dysplasia with polymorphic DNA markers. J Med Gen 30:265–268

    Article  Google Scholar 

  8. Hästbacka J, Sistonen O, Kaitila I, Weif-fenbach B, Kidd KK, Chapelle A (1991) A linkage map spanning the locus for diastrophic dysplasia (DTD). Genomics 11:968–973

    Article  PubMed  Google Scholar 

  9. Hobbins JC, Bracken MB, Mahoney MJ (1982) Diagnosis of fetal skeletal dysplasias with ultrasound. Am J Obstet Gynecol 142:306–312

    CAS  PubMed  Google Scholar 

  10. Horton WA, Rimoin DL, Hollister DW, Silberberg R (1979) Diastrophic dwarfism: a histochemical and ultrastructural study of the enchondral growth plate. Pediatr Res 13:904–909

    Article  CAS  PubMed  Google Scholar 

  11. Horton WA, Rimoin DL, Lachmann R et al. (1978) The phenotypic variability of diastrophic dysplasia. J Pediatr 93:609–613

    Article  CAS  PubMed  Google Scholar 

  12. Lamy M, Moretaux P (1960) La nanisme diastrophique. Presse Med 68:1977–1980

    CAS  PubMed  Google Scholar 

  13. Mantagos S, Weiss RR, Mahoney M, Hobbins JC (1981) Prenatal diagnosis of diastrophic dwarfism. Am J Obstet Gynecol 139:111–113

    CAS  PubMed  Google Scholar 

  14. Murray LW, Hollister DW, Rimoin DL (1989) Diastrophic dysplasia: evidence against a defect of type II collagen. Matrix 9:459–467

    Article  CAS  PubMed  Google Scholar 

  15. O’Brien GD, Rodeck C, Queenan JT (1980) Early prenatal diagnosis of diastrophic dwarfism by ultrasound. Br Med J 288:1300

    Article  Google Scholar 

  16. Qureshi F, Jacques SM, Johnson SF, Johnson MP, Hume RF, Evans MI, Yang SS (1995) Histopathology of fetal diastrophic dysplasia. Am J Med Gen 56:300–303

    Article  CAS  Google Scholar 

  17. Ryöppy S, Poussa M, Merikanto J, Marttinen E, Kaitila I (1992) Foot deformities in diastrophic dysplasia. J Bone Joint Surg 74:441–444

    Google Scholar 

  18. Shapiro F (1992) Light and electron microscopic abnormalities in diastrophic dysplasis growth cartilage. Calcified Tissue Int 51:324–331

    Article  CAS  Google Scholar 

  19. Taber P, Freedman S, Lackey DA (1973) Diastrophic dwarfism. Progr. Pediatr Radiol 4:152–166

    Google Scholar 

  20. Tennstedt C, Bartho S, Bollmann R, Schwenke A, Nitz I, Röthe K (1993) Osteochondrodysplasien. Zentralblatt Pathol 139:71–80

    CAS  Google Scholar 

  21. Wiedemann HR, Kunze J (1995) Atlas der klinischen Syndrome. Schattauer, Stuttgart New York, S 270–271

    Google Scholar 

  22. Wigglesworth JS, Singer DB (1991) Textbook of fetal and prenatal Pathology, vol. 2. Blackwell Scientific, Oxford London, p 1202

    Google Scholar 

  23. Wladimiroff JW, Niermeijer MF, Jahoda LM, Stewart PA (1984) Prenatal diagnosis of skeletal dysplasia by realtime ultrasound. Obstet Gynecol 63:360–364

    CAS  PubMed  Google Scholar 

  24. Wynne-Davies R, Hall CM, Apley AG (1985) Atlas of skeletal dysplasias, Churchill Livingston, Philadelphia, pp 258–273

    Google Scholar 

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Authors and Affiliations

  1. Abteilung für Paidopathologie und Plazentologie, Medizinische Fakultät, Virchow-Klinikum, Humboldt-Universität zu Berlin, Deutschland

    M. Guschmann & M. Vogel

  2. Abteilung für Pädiatrische Radiologie, Medizinische Fakultät, Virchow-Klinikum, Humboldt-Universität zu Berlin, Deutschland

    T. Riebel

  3. Institut für Humangenetik, Medizinische Fakultät, Virchow-Klinikum, Humboldt-Universität zu Berlin, Deutschland

    J. Kunze & D. Horn

  4. Frauenklinik des Evangelischen Krankenhauses Oberhausen, Deutschland

    R. Goebel

Authors
  1. M. Guschmann
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  2. M. Vogel
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  3. T. Riebel
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  4. J. Kunze
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  5. D. Horn
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  6. R. Goebel
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Guschmann, M., Vogel, M., Riebel, T. et al. Diastrophische Dysplasie. PerinatalMedizin 9, 75–79 (1997). https://doi.org/10.1007/s001520050060

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  • DOI: https://doi.org/10.1007/s001520050060

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