Dyggve-Melchior-Clausen syndrome.

نویسنده

  • P Beighton
چکیده

Dyggve-Melchior-Clausen syndrome (DMC) is a rare, dwarfing, skeletal dysplasia characterised by a coarse facies, bulky jaws, short trunk, and barrel chest. Significant radiographical changes include platyspondyly and dysplasia of the epiphyses and metaphyses of the proximal limb bones. Dislocation of the hips and malalignment of the spine and knees are variable features. Inheritance is autosomal recessive; the presence or absence of mental retardation might be an indication of heterogeneity.

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عنوان ژورنال:
  • Journal of medical genetics

دوره 27 8  شماره 

صفحات  -

تاریخ انتشار 1990