Pycnodysostosis with heterozygous beta-thalassemia |
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| Authors: | Gabriele Benz Edla Schmid-Rüter |
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| Institution: | (1) Department of Radiology and Department of General Pediatrics, University Children's Hospital, Heidelberg, FRG;(2) Universitäts-Kinderklinik, Im Neuenheimer Feld 150, D-6900 Heidelberg, Federal Republic of Germany |
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| Abstract: | A 6-year follow-up of a Greek girl with pycnodysostosis associated with heterozygous beta-thalassemia is reported. Active rickets in infancy was superimposed on pycnodysostosis. In the family the autosomal recessive disease, pycnodysostosis, appeared in two of three siblings in combination with the autosomal dominant disease, thalassemia minor. |
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| Keywords: | Pycnodysostosis Beta-thalassemia Unusual familial occurrence Rickets Roentgen findings |
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