OSTEOPSATHYROSIS 
Extraordinary Fragility of Bones Occasionally Found in Babies is Due to Heredity 
and Behaves as a Dominant Trait in Transmission—Usually Found 
Associated with a Porcelain Blue Color of the ‘‘Whites 
of the Eyes.” 
A REVIEW 
N July 11, 1893, a boy was born 
under normal circumstances 
who, when examined by the 
attending physician, was found 
to have appeared in the world with 
both thigh bones broken. The legs 
were put in splints and union of the 
bones occurred in three weeks. 
On September 11 he broke an arm 
and a leg, but they again united nicely. 
On March 1, 1894, the boy, sitting 
in a chair, fell forward but not out of 
the chair and suffered a fracture of the 
right femur near the hip. 
On September 11 his left thigh bone 
was broken again; a union occurred, 
but in October the bone was fractured 
once more. 
In the spring of 1895 he fell out of 
his hammock and broke both thigh 
bones; three months later the right 
one was again fractured. 
It is thought that he suffered frac- 
tures at other times, that were less 
carefully noted. At any rate, by the 
time he was 2 years and 10 months old 
a careful examination revealed cer- 
tainly twelve fractures and_ possibly 
seventeen or eighteen; but already they 
had begun to occur less frequently. 
The following points about the case 
are worthy of notice: 
(1) In early infancy there was an 
extraordinary lability to fracture; 
(2) but it began to diminish as the 
baby grew older; 
(3) the fractures occurred from trivial 
knocks and, apparently, even from 
merely internal muscular stresses; 
(4) healing took place rapidly and 
left little irregularity in the bone at the 
point of union. The bone was _ per- 
fectly healthy and rigid, but the de- 
velopment of a strong structure was 
much delayed. The bone was not 
diseased or soft, but was merely fragile. 
Cases of this kind are not rare in 
medical literature, where the affection 
is known as osteopsathyrosis. The cause 
has been shown by a number of in- 
vestigators to be an imperfection of the 
developmental processes involved in 
the formation of bone. In the ordinary 
course of development the whole bone 
is finally enwrapped in a casing of 
extremely tenacious and flexible bony 
rods; but in this condition such rods 
are not formed. There are other abnor- 
malities of the mechanical structure.! 
One case is on record of a pair of 
twins, one of whom showed at birth 
this defective condition of the bones, 
while the other did not. Inevitably, 
therefore, we must suspect that the 
abnormality is not due to anything in 
the condition of the mother, for in that 
case both the children should have 
been affected. 
Nor can it be due to anything in later 
life, for we find that the child’s bones 
are sometimes broken at birth, as in 
the case cited, or even before. 
EVIDENCE POINTS TO HEREDITY 
When we find, moreover, that the 
appearance of this condition is not 
haphazard, but that it runs in families, 
we are driven to the conclusion that it 
is not a result of any environmental 
conditions. It is a matter of heredity. 
Either, we may suppose, the child lacks 
certain hereditary factors that normally 
perfect the structure of the bone, or 
perhaps it has received some additional 
‘Such a condition is easily confused with the disease of children known as rickets, and it 
is possible that some of the cases which figure in the present study are really rickets. 
The dif- 
ference between the two is that in rickets there are usually other widespread abnormalities of the 
skeleton, while in the defect here considered the skeleton is perfect save for the unusual brittleness. 
36 
—— 
