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Weill-Marchesani syndrome

Growth hormone, thyroid and chromosome studies

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Abstract

Marchesani syndrome consists essentially of shortness of stature, spherophakia and other eye abnormalities and brachydactyly. It is probably an inherited disease of unknown etiology manifesting itself in organs of mesodermal origin.

Investigations of a patient with the full picture of the syndrome revealed normal growth hormone levels following insulin and glucagon stimulation as well as normal thyroid function. Karyotypy was also normal. Intelligence was average for the patient's age.

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References

  1. Marchesani, O.: Brachydaktylie und angeborene Kugellinse als Systemerkrankung. Klin. Mbl. Augenheilk. 103, 392 (1939).

    Google Scholar 

  2. Weill, G.: Ectopie du cristallin et malformations générales. Ann. oculist. (Paris) 169, 21 (1932)

    Google Scholar 

  3. Lenz, W.: In: Handbuch der Humangenetik, Vol. 2, p. 101, Becker, P. E. (Ed.). Stuttgart: Thieme 1964

    Google Scholar 

  4. Uyama, S., Ohni, E., Toda, M.: Dysostosis and eye. III: Chromosome studies of Marchesani's and Marfan's syndrome. Jap. J. clin. Ophthal. 19, 491 (1965)

    Google Scholar 

  5. Heimendinger, J.: Die Ergebnisse von Körpermessungen an 5000 Basler Kindern von 0–18 Jahren. Schweiz. med. Wschr. 88, 785, 807 (1958)

    Google Scholar 

  6. Boden, G., Soeldner, J. S.: A sensitive double antibody radioimmunoassay for human growth hormone. Diabetologica 3, 413 (1970)

    Google Scholar 

  7. Waldhäusl, W., Rath, F.: Development of antibodies to human growth hormone in children of short stature treated with human growth hormone. Acta endocr. (Kbh.) 68, 345 (1971)

    Google Scholar 

  8. McGavic, J. S.: Weill-Marchesani syndrome. Amer. J. Ophthal. 62, 820 (1966)

    Google Scholar 

  9. Jones, R. F.: The syndrome of Marchesani. Brit. J. Ophthal. 45, 377 (1961)

    Google Scholar 

  10. Frisch, H., Waldhäusl, W., Rath, F.: Comparison of insulin-, arginine- and glucagon-loading test for the diagnosis of growth hormone deficiency in dwarfed children. Pädiat. u. Pädol. 7, 162 (1972)

    Google Scholar 

  11. Zabriskie, J., Reisman, M.: Marchesani syndrome. J. Pediat. 52, 158 (1958)

    Google Scholar 

  12. Feinberg, S. B.: congenital mesodermal dysmorpho-dystrophy. Radiology 74, 218 (1960)

    Google Scholar 

  13. Bowers, D.: Marfan's syndrome and the Weill-Marchesani syndrome in the S. family. Ann. intern. Med. 51, 1049 (1959)

    Google Scholar 

  14. Rousseau, H.: Ectopie congénitale du cristallin avec brachymorphie. Bull. Soc. franç. Ophthal. 62 369 (1949)

    Google Scholar 

  15. Probert, L. A.: Spherophakia with brachydactyly. Amer. J. Ophthal. 36, 1571 (1953)

    Google Scholar 

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Authors and Affiliations

  1. Pediatric and 2nd Ophthalmologic University Clinics, Vienna

    M. Götz & E. Schenk

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  1. M. Götz
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  2. E. Schenk
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Götz, M., Schenk, E. Weill-Marchesani syndrome. Z. Kinder-Heilk. 116, 43–49 (1973). https://doi.org/10.1007/BF00438827

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  • DOI: https://doi.org/10.1007/BF00438827

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