X-linked skeletal dysplasia with mental retardation.

  title={X-linked skeletal dysplasia with mental retardation.},
  author={Joe C. Christian and E A DeMyer Franken and J. Stephen Huff and S Khairi and Terry Reed},
  journal={Clinical genetics},
  volume={11 2},
A syndrome compatible with an X-linked trait is described, affecting four male cousins in three sibships. The body had skeletal anomalies, including short stature, ridging of the metopic suture, fusion of cervical vertebrae, thoracic hemivertebrae, scoliosis, sarcral hypoplasia and short middle phalanges. In addition, they had moderate developmental retardation, and abducens palsies. Three of the four had glucose intolerance, and one was born with an imperforate anus. Of five female obligate… CONTINUE READING