Grebe chondrodysplasia and brachydactyly in a family.
A family is reported in which various skeletal abnormalities have been segregating over three generations. The Great-grandfather (11) of the consultand had features consistent with Grebe chondrodysplasia. The other members of the family have brachydactyly, radiologically characterised by short first metacarpals and short middle phalanges of the index and little fingers. The possibility of association of familial brachydactyly and Grebe chondrodysplasia is discussed. An attempt has been made to deal with the genetic counselling problem in this particular family.
D000328:Adult; D004392:Dwarfism / Q000235:genetics*; D004480:Ectromelia / Q000235:genetics*; D005260:Female; D005385:Fingers / Q000002:abnormalities*; D006801:Humans; D008297:Male; D010375:Pedigree