PRENATAL-DIAGNOSIS OF AUTOSOMAL RECESSIVE OSTEOPETROSIS, INFANTILE TYPE, BY X-RAY EVALUATION

Prenatal diagnosis for infantile osteopetrosis was attempted during th e third pregnancy of a first-cousin marriage whose family history reve aled an affected previous child. At the 25th week of pregnancy, fetal X-ray evaluation revealed marked sclerosis of osteopetrotic bone and m etaphyseal splaying and clubbing of both femurs. The pregnancy was ter minated and repeated X-rays and histopathological examination of fetal bone (femur) confirmed the diagnosis.