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Italian families,
48
in patients of Turkish descent and a
patient from the United Arab Emirates.
17
Only additional
reporting will permit an accurate estimate of the inci-
dence of type VI OI.
OI has been reported throughout the world with no
selection for race or gender. It could be estimated that
0.008% of the world's population have OI so that about
500,000 persons worldwide have OI. There are probably
25,000 affected individuals in the United States and an
equal number unrecognized because of the mild nature
of their disorder. Approximately 3900 persons have OI
in the United Kingdom.
The incidence of OI at birth is highly variable
depending on geographic location and definition of
the individual phenotype. OI type I has a prevalence of
approximately 3-4/100,000. Sillence reported an inci-
dence in Australia of 3.5 per 100,000.
4
Less severe dis-
ease is estimated to occur in 4-5 cases/100,000 births.
4
In
1979, Sillence et al. reported a prevalence of 3-4/100,000
and an incidence of 3.5/100,000 for OI type I in Victoria,
Australia.
4
A study in Edinburgh revealed an incidence
at birth of 1 in 20,000.
42
The incidence of OI is also underestimated in the
case of aborted Sillence type II OI and lethal or severe
type VIII cases where diagnosis at birth is not possible.
OI type II has an incidence of about 1:100,000-2:100,000.
Sillence
4
reported an incidence in Australia of 1.6 per
100,000, translating to an approximate prevalence of
1:20,000 in those who survive early childhood mortality.
In Beirut, Bittar reported that of 3865 consecutive new-
borns delivered between 2/1/91 and 7/31/93, studied
during the first 24 hours of life, 40 had single defects and
21 had multiple congenital anomalies. Out of the latter,
two had OI and achondroplasia. (Note: this suggests the
probable occurrence of a recessive OI type.) The gen-
eral estimate of occurrence for severe or lethal disease
is about 3-4 cases/100,000 births. The frequency of type
VIII disease is not established.
In a Northern Ireland survey spanning 12 years, the
minimum prevalence range per live births of OI type II
was 0.15/10,000: only four children were identified.43
43
OI
type III has a prevalence of 1:100,000-2:100,000. Sillence
4
reported an incidence in Australia of 1.6 per 100,000 for
OI type III.
Estimates based on the presence of fractures at birth
range from 1.6/100,000 births in Singapore
44
to 3.3/100,000
in France,
45
to 15/100,000 in the United Kingdom.
46
Barbosa-Buck et al. conducted a survey for OCD
based on more than 1.5 million births in Latin America.
49
OCD cases were detected from 1,544,496 births occur-
ring and examined in 132 hospitals of ECLAMC
(Latin American Collaborative Study of Congenital
Malformations) between 2000 and 2007. OCD was diag-
nosed in 492 newborns, resulting in a prevalence of 3.2
per 10,000. Among 211 cases from the best documented
group, 33% of cases it OI, thus suggesting that OI is the
most common of the inherited skeletal dysplasias.
Stevenson et al. have surveyed the Utah Birth Defect
Network (United States) which collects population-based
data on births from all Utah women for the prevalence of
skeletal dysplasias. Cases categorized as a skeletal dys-
plasia from all live births, stillbirths and pregnancy ter-
minations (TAB) between 1999 and 2008 were reviewed.
One hundred and fifty-three cases were categorized by
groupings defined by molecular, biochemical and/or
radiographic criteria as outlined in the 2010 Nosology
and Classification of Genetic Skeletal Disorders: 88%
live births, 3% stillborn, 9% TAB. The overall prevalence
for skeletal dysplasias was 3.0 per 10,000 births and
20.0 per 10,000 stillbirths. The most common diagnostic
groups were osteogenesis imperfecta (OI;
n
= 40; 0.79 per
10,000), thanatophoric dysplasia (
n
= 22; 0.43 per 10,000),
achondroplasia (
n
= 18; 0.35 per 10,000) and cleidocranial
dysplasia (
n
= 6; 0.12 per 10,000).
47
References
[10]
[11]
[12]
