For centuries physicians have witnessed the tragic instance of a child born with multiple fractures of the bones. Lobstein,1 in 1833, designated this condition as Ostepsathyrosis, a descriptive term derived from Greek, meaning friable bones. In 1849, Vrolik reported a similar condition, which he named osteogenesis imperfecta, implying defective formation of bone as the cause. Spurway,2 in 1896, reported the first instance in which the condition of fragile bones (fragilitas ossium) was associated with blue scleras. Bronson,3 in 1917, and van der Hoeve and de Kleyn,4 in 1918, added to the syndrome the third feature, deafness. Key,5 in 1926, referred to the syndrome as "hereditary hypoplasia of the mesenchyme" and called attention to the hypotonicity of the ligaments with hypermobile joints. In 1928 Bell6 collected 75 pedigrees including 489 cases of this abnormality. The condition is not so rare as is generally thought.
Recent literature7 has shown renewed
FARBER JE, MARGULIS AE. BLUE SCLERAS, BRITTLE BONES AND DEAFNESS: A REPORT OF AN AFFLICTED FAMILY. Arch Intern Med (Chic). 1943;71(5):658–665. doi:https://doi.org/10.1001/archinte.1943.00210050078007
Customize your JAMA Network experience by selecting one or more topics from the list below.
Create a personal account or sign in to: