Literature DB >> 6174925

Dyskeratosis congenita: radiologic features.

T E Kelly, C B Stelling.   

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 diaphyses. Two of the males were retarded brothers who additionally showed intracranial calcifications.

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Year:  1982        PMID： 6174925     DOI： 10.1007/BF01221708

Source DB:  PubMed          Journal:  Pediatr Radiol        ISSN： 0301-0449


  5 in total

1.  Dyskeratosis congenita with pancytopenia. Another constitutional anemia.

Authors:  S Inoue; G Mekanik; M Mahallati; W W Zuelzer
Journal:  Am J Dis Child       Date:  1973-09

2.  Dyskeratosis congenita: relationship to Fanconi's anemia.

Authors:  W Steier; G A Van Voolen; V J Selmanowitz
Journal:  Blood       Date:  1972-04       Impact factor: 22.113

3.  Intracranial calcifications and dyskeratosis congenita.

Authors:  S E Mills; P H Cooper; B E Beacham; K E Greer
Journal:  Arch Dermatol       Date:  1979-12

Review 4.  Dyskeratosis congenita: clinical features and genetic aspects. Report of a family and review of the literature.

Authors:  C Sirinavin; A A Trowbridge
Journal:  J Med Genet       Date:  1975-12       Impact factor: 6.318

5.  X-linked dyskeratosis congenita with pancytopenia.

Authors:  A Gutman; A Frumkin; A Adam; N Bloch-Shtacher; L A Rozenszajn
Journal:  Arch Dermatol       Date:  1978-11
  5 in total
  3 in total

1.  Dyskeratosis congenita.

Authors:  H R Davidson; J M Connor
Journal:  J Med Genet       Date:  1988-12       Impact factor: 6.318

2.  Clastogen-induced fragility may differentiate pancytopenia of congenital dyskeratosis from Fanconi anaemia.

Authors:  A Schneider; U Mayer; E Gebhart; D Harms; J Gromball; U Glöckel; J D Beck
Journal:  Eur J Pediatr       Date:  1988-10       Impact factor: 3.183

3.  Multiple bilateral hip fractures in a patient with dyskeratosis congenita caused by a novel mutation in the PARN gene.

Authors:  Z Belaya; O Golounina; A Nikitin; N Tarbaeva; E Pigarova; E Mamedova; M Vorontsova; I Shafieva; I Demina; W Van Hul
Journal:  Osteoporos Int       Date:  2020-11-27       Impact factor: 4.507
  3 in total

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