We report here four cases of blue sclerotics, brittle bones and deafness; three illustrate the symptoms and signs of the disease and one the familial transmission. The cases are characterized by blue sclerotics, early and continued occurrence of fracture, because of the fragile type of the bones, and sometimes the development in early youth of progressive deafness.
The disease is hereditary and a patient may have one, two or all symptoms. Children afflicted with the blue sclerotics alone usually die in infancy. When the blue sclerotics are first manifest in adolescence they are associated with brittle bones, and later deafness may supervene.
Stobie,1 in reviewing the literature, noted only twenty-seven cases or family groups: twenty-four from England and Germany and three from this country. Conlon2 reported six cases in one family from Boston, Ostheimer3 one case in a child of Russian Jew parentage from Philadelphia, and Herrman4 one case
SHUGRUE JJ, ROCKWOOD R, ANDERSON EW. FRAGILITAS OSSIUM AND DEAFNESS. Arch Intern Med (Chic). 1927;39(1):98-108. doi:10.1001/archinte.1927.00130010103008