Fragilitas Osseum. Brittle Bones and Blue Sclera. Hereditary Mesenchyme Hypoplasia

Abstract

I have seen recently at the Clinic a case which I consider to be a mixed picture of fragilitas osseum, osteitis fibrosa cystica, and Paget’s disease, which began with blue sclerotics and brittle bones. I believe this supports the theory that these lesions have a general relative etiology, and the findings in this case demonstrating various stages of the same disease indicate that it is not due to parathyroid disease.

CaseStudy

The patient was a man 31 years of age when admitted to the Clinic. He had been a normal child until at the age of 7½ years when the skull became abnormal in shape and the left maxilla became enlarged. He had a series of fractures beginning at the age of 17 years, which occurred with slight trauma and continued until the age of 24 years. He broke ribs by sneezing and putting on his shirt. He fractured the sternum in a friendly boxing bout. He has fractured both clavicles and the right femur by insignificant trauma. He has had pains in the leg and many “painful bones.” There has been frequent nasal bleeding.

Physical examination revealed a man 63 inches in height and weighing 122 pounds. He was poorly developed and had blue sclerotics. He had had some dental extractions but the remaining teeth were excellent. There was marked pigeon breast deformity and scoliosis of the right mid-dorsal region. A systolic murmur was heard. The examination of the abdomen gave negative findings. The left maxilla and entire. . .