Recessively inherited brachydactyly type C.

نویسندگان

  • M Baraitser
  • J Burn
چکیده

The Bell classification of brachydactyly' divides this group of conditions into types Al to A5, B, C, D, and E. Fitch2 in 1979 suggested that types A4 to A5 be omitted because the latter is indistinguishable radiologically from type B, while type A4 is possibly a mild expression of Al. She suggested that type E should be further subdivided depending on which metacarpals are involved. The table summarises the classification. There have been numerous reports of isolated brachydactyly occurring as a familial trait; these reports have suggested an autosomal dominant pattern of inheritance. We report two sibs with type C brachydactyly, whose parents were consanguineous and unaffected, suggesting autosomal recessive transmission in this family.

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عنوان ژورنال:
  • Journal of medical genetics

دوره 20 2  شماره 

صفحات  -

تاریخ انتشار 1983