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  3. Research By Disease

Disease: Crawfurd syndrome

  • A further family with congenital renal proximal tubular dysgenesis
  • Alport's syndrome
  • Alport's syndrome of hereditary nephritis and deafness
  • An orthopaedic presentation of AIDS: brief report
  • Anterior lenticonus and Alport's syndrome
  • Cauda equina and lumbar nerve root compression in patients with AIDS
  • Chromosomal mosaicism in a case of Klinefelter's syndrome associated with thalassaemia
  • Dermatoglyphics in partial C trisomies
  • Early prenatal diagnosis of Hurler's syndrome with termination of pregnancy and confirmatory findings on the fetus
  • First-trimester diagnosis of Lesch-Nyhan syndrome
  • Investigation of three patients with the "ring syndrome", including familial transmission of ring 5, and estimation of reproductive risks
  • Non-progressive cerebellar ataxia, aplasia of pupillary zone of iris, and mental subnormality (Gillespie's syndrome) affecting 3 members of a non-consanguineous family in 2 generations
  • PATERSON-KELLY SYNDROME IN ADOLESCENCE
  • PATERSON-KELLY SYNDROME IN ADOLESCENCE: A REPORT OF FIVE CASES
  • Renal dysplasia and asplenia in two sibs
  • Severe mental handicap: pathogenesis, treatment, and prevention
  • Syndromes of microcephaly, microphthalmia, cataracts, and joint contractures
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CheckOrphan is a non-profit organization located in Basel, Switzerland and Santa Cruz, California that is dedicated to rare, orphan and neglected diseases. CheckOrphan offers users an interactive and dynamic platform for all these diseases. This strategy allows visitors to be updated daily on all the latest news and interact with people internationally. This is essential, because due to the nature of these diseases, there is not a large concentration of individuals within any given proximity.
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