Skeletal dysplasia-intellectual disability syndrome combines skeletal anomalies (short stature, ridging of the metopic suture, fusion of cervical vertebrae, thoracic hemivertebrae, scoliosis, sacral hypoplasia and short middle phalanges) and mild intellectual deficit. It has been described in four male cousins in three sibships. Glucose intolerance was present in three cases, and imperforated anus in one case. Carrier females had minor manifestations (fusion of cervical vertebrae and glucose intolerance). Transmission seems to be X-linked.
[Isolated ilial tuberculosis and its differential diagnosis].
Richter R, Michels P. Rofo. 1982;137(2):135-40.
Only two (one male, one female) were of tuberculous origin, the other consisted of non-specific osteomyelitis, one sarcoma and one lesion in a Hand-Schuller-Christian syndrome.