The purpose of this paper is to call attention to a case of blue sclerotics and fragile bones and to discuss some of the interesting features of this uncommon condition.
Although hereditary idiopathic fragility of the bones was noted as far back as 1788 by Ekman1 and the occurrence of blue scleorotics was referred to by Henzschel2 in 1831, Gescheidt3 in 1832 and von Ammon4 in 1841, it was not until 1900 that Eddowes5 called attention to the association of the two conditions, constituting a syndrome, and to the familial nature of the syndrome. Due credit must be given Spurway6 who four years earlier, in 1896, in publishing a pedigree of hereditary bone fragility running through four generations noted that many members of the family had a curious bluish tinge of the eyeballs.
Deafness was mentioned by Adair-Dighton7 in 1912 and by
DESSOFF J. BLUE SCLEROTICS, FRAGILE BONES AND DEAFNESS. Arch Ophthalmol. 1934;12(1):60–71. doi:10.1001/archopht.1934.00830140068006
Ophthalmology in JAMA: Read the Latest
Customize your JAMA Network experience by selecting one or more topics from the list below.