X-linked skeletal dysplasia with mental retardation

A syndrome compatible with an X-linked trait is described, affecting four male cousins in three sibships. The boys had skeletal anomalies, including short stature, ridging of the metopic suture, fusion of cervical vertebrae, thoracic hemivertebrae, scoliosis, sacral 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 carriers studied, three had fusion of cervical vertebrae, three had some shortening of the middle phalanges and three had glucose intolerance.
The syndrome in this family was compared to previously reported syndromes, and the conclusion was reached that it represents a previously unreported X-linked syndrome with minor manifestations in carrier females.