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Dyskeratosis congenita: Radiologic features (1982)

Kelly, T. E. ; Stelling, C. B.

Springer

Pediatric radiology 12 (1982), S. 31-36

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ISSN: 1432-1998

Keywords: Coarse bone trabeculation ; Bone fragility ; Pleiotropism

Source: Springer Online Journal Archives 1860-2000

Topics: Medicine

Notes: Abstract Three males with the X-linked disorder dyskeratosis congenita are described. Each suffered femoral fractures after minimal trauma with poor healing. Long bones showed coarse trabecular patterns of the metaphyses and small lucency areas in the of the metaphyses and small lucency areas in the diaphyses. Two of the males were retarded brothers who additionally showed intracranial calcifications.

Type of Medium: Electronic Resource

URL: http://dx.doi.org/10.1007/BF01221708

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