Osteopetrosis: a single centre experience of stem cell transplantation andprenatal diagnosis

Malignant osteopetrosis (MOP) is an autosomal recessive disease in which os teoclast dysfunction results in excessive bone deposition and early infant death, Thirteen children suffering from MOP from four related families all belonging to one Bedouin tribe, were studied. The disease was diagnosed as early as at a few days postnatal to 5 months. Nine children underwent BMT, four of whom are still alive; one is blind and two have markedly reduced vi sion. Four children who did not undergo BMT died between 4 and 6 months of age. Recently, the gene for MOP has been mapped for this Bedouin tribe allo wing prenatal diagnosis. Seven pregnancies were subsequently prenatally dia gnosed and two fetuses were found to be affected. Pregnancy was electively terminated in one case. In the other case the parents refused and after est ablishing the diagnosis, the newborn was transplanted at the age of 7 days.