Restrictive dermopathy: a report of three cases.

  title={Restrictive dermopathy: a report of three cases.},
  author={Quen Q. Mok and Robert Curley and J. Tolmie and Rebecca Marsden and Michael A. Patton and E. Graham Davies},
  journal={Journal of medical genetics},
  volume={27 5},
We report three infants with a rare syndrome of restrictive dermopathy, in which rigidity of the skin at birth is associated with characteristic facial anomalies, generalised arthrogryposis, bony abnormalities, and lung hypoplasia. The skin has a distinctive pathology with compaction of the dermal collagen and fibrosis of the subcutaneous tissue. The inheritance is likely to be autosomal recessive and the condition appears to be fatal in the early neonatal period.