Supplementum 3+4/2007 - Společnost pro pojivové tkáně

OI change with age. The major findings
include fractures of varying ages and stages
of healing of the long bones, ribs and skull,
typical deformities of long bones, “codfish”
vertebrae, which are the consequence of
spinal compression fractures, platyspodyly,
Wormian bones (they are not pathognomic
for OI), protrusio acetabuli – heart shaped
pelvis (7 – Mařík 2003), osteopenia. Life
expectancy is dependent on the type
of OI and is influenced by neurological,
respiratory and cardiovascular complications
(due to skeletal malformations). The
life prognosis is not shortened in most of
patients. The differential diagnostics of
osteogenesis imperfecta depends largely
on the age at which the individual is considered.
We have to think about the juvenile
idiopathic osteoporosis in children at
the first place. In newborns is difficult to
distinguish from the syndrome of abused
child sometimes. The symptomatic treatment
of patients with OI is comprehensive
(medicamentous, orthotic – prosthetic,
orthopaedic and surgical) with the aim to
affect motor development and growth of
children positively and to minimize the
skeletal deformities.
Patients and methods
Our collection of patients with OI was
made up of 55 patients (27 males and 28
females) in the age range 1.5 to 56 years.
The patients were followed and treated
in the Ambulant Centre for Defects of
Locomotor Apparatus in Prague (the length
of following is 4 months to 23 years).
Patients were classified into the VII types
of the OI according to the newest classification
based on clinical and radiological findings
(8 – Glorieux 2003, 12 – Spranger et
al. 2002) with the attention to the Sillence
classification from the year 1979 (11 –
Sillence). The patients were diagnosed on
the base of clinical, radiological and anthropological
examination. Genealogical examination
was done in families with effected
children. Biochemical examination of
blood and urine was provided regularly
(within the examination of bone turnover).
Blood for molecular genetic examination
was taken with the agreement of
patients during the last 8 years (DNA samples
were isolated and stored in the DNA
bank at the laboratory of the Department
of Anthropology and Human Genetics,
Faculty of Science, Charles University in
Prague). Densitometry (dual energy X-ray
absorptiometry – DEXA, DXA) was done in
older children in the last three years only
(because of lack of children´s software).
Surgery treatment was planned individually.
All collected data of patients were gathered
into the complex database and statistically
evaluated. Anamnesis information of
patients, one representative anthropometric
measurement, clinical and radiological
examination, results of densitometry and
biochemical outcomes of bone turnover
markers were integrated into the database.
Statistical analysis was carried out in the
statistical pack “R”, 2.4.0 version. The development
of body height used up all accessible
data about growth of patients during
longer time period of following up was
interpreted separately in semi-longitudinal
study. The thickness of skin folds and bone
age were in small amount of patients evaluated
but they weren´t inserted into to the
complex statistical database. Patients were
assessed within the groups of clinical types
of OI and individual types were compared
to each other with the accent on body
height, proportionality of trunk and extremities,
shape of thorax, head, and status of
326 The 9 th Prague-Sydney-Lublin Symposium