We report for the first time the combination of congenital sacral agenesis and congenital absence of the pituitary gland. This rare association is described in a baby born to a diabetic mother. The baby died at the age of 11 weeks after a cardiorespiratory collapse. The findings at necropsy, which included unusual neurological and visceral anomalies, are reported. We draw attention to the increasing evidence that maternal diabetes is a factor in producing foetal malformations.

Hypophosphatasia in adults is rare. Two elderly sisters presenting with pathological fractures of the femur are reported to illustrate the difficulties in orthopaedic management of this disease. All patients with a history of repeated fractures, especially from minor trauma and with generalised radiological bony abnormality, should be screened for this rare disease. A consistently low level of serum alkaline phosphatase with the presence of phosphoethanolamine in the urine is diagnostic.