Clinical study
Osteopetrosis, renal tubular acidosis and basal ganglia calcification in three sisters

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Abstract

Three adult sisters with osteopetrosis in infancy had spontaneous resolution of bone modeling defects and osteosclerosis. During adolescence, basal ganglia calcification developed in two. Renal tubular acidosis (type I) was diagnosed in each during early adulthood. The disorder was transmitted apparently as a recessive trait—the same mode of inheritance as for the “malignant” form of osteopetrosis which is usually fatal during childhood. Electron microscopy of bone suggested that osteoclasts failed to form “ruffled membranes” characteristic of active bone resorbing cells. Chronic systemic acidosis may have ameliorated the skeletal manifestations of this new syndrome.

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  • Cited by (0)

    This study was supported in part by NIH Training Grant AM-07033, CRC Grant RR-00036, NIH Grant AM-11674 and a grant in aid from the St. Louis Unit, Shriners Hospitals for Crippled Children. It was presented in part at the Annual Meeting, American Society of Human Genetics, Philadelphia, October 11–14, 1972.

    1

    From the Division of Bone and Mineral Metabolism, Department of Medicine, and the Department of Pathology and Laboratory Medicine, The Jewish Hospital of St. Louis; the Edward Mallinckrodt Institute of Radiology; the Department of Medical Genetics, St. Louis Children's Hospital; Washington University School of Medicine, St. Louis, Missouri.

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