Supplementum 3+4/2007 - Společnost pro pojivové tkáně

nutrition. We were also trying to find some
relations among anthropometric, clinical
and biochemical parameters.
Results
33 patients were diagnosed as type IA,
one patient as type III/IIB (surviving Vrolik
syndrome), 9 patients as type III, 5 patients
as type IVA, 6 patients as type IVB and
1 patient as type VII. Genealogical examination
was done in all patients within the
collection of patients. Most cases had got
the origin in a new autosomal dominant
(AD) or autosomal recessive (AR) mutation.
The disease was inherited in the family
in 11 cases (autosomal dominant transfer
at type I). DNA bank of patients with OI
was founded. Chosen exons (8, 27, 47)
and their side introns of col1A1 gene were
examined. Detected mutations were mainly
substitutions (13 substitutions), after
deletions (2 deletions) and 1 insertion.
The interpretation of molecular genetic
findings was not closed. Anthropological
characteristics within OI types were specified.
Types of OI differed from each other
remarkably. Type I was the mildest, type III
(III/IIB) was the most severe and the patients
of OI type IV were somewhere in the
middle of the two mentioned types. The
differences were in number of fractures,
age of first fracture, deformities of upper
and lower extremities, protrusio acetabuli,
in occurrence of Wormian bones,
healing, extinction of bone marrow cavity.
Scoliosis and osteopenia/osteoporosis of
spine, fractures of spine, platyspondyly
and “codfish” vertebrae were presented
in all cases. Nevertheless the presence
of kyphoscoliosis, thoracic deformities
and deformities of ribs differed in type
importantly. We found non-significant
or border-line significant differences in
incidence of fractures of short bones,
predilection of fractures, in incidence of
asymmetric length of legs, knee deformities,
flat feet, osteopenia/osteoporosis of
hips and number of fractures after puberty.
Significant variances were in number
of operations and weal-chaired patients.
Significant difference among the types
also occurred in incidence of blue sclera
(more often in type I, but it was presented
in all individuals). Dental involvement
was common in type IV (IVB). There
weren’t found big differences in hearing,
cardiovascular and neurological involvement.
There weren´t significant differences
in bone turnover markers among
the types. However big differences were
ascertained in all followed anthropometric
parameters except circumference of
thorax, head and arm, where the differences
are borderline (near the statistical
significant level p = 0.05).
Relations among clinical, anthropometic
and biochemical parameters were analyzed.
The most important factor which
affected the severity of disease was the
type of OI. The type of OI determined the
severity of affected collagen of fibrous
connective tissue of patients. Body height
in more severe affected patients was
lower (upper and lower body segments
were shortened), the thoracic and cephalic
index was higher, fractures and deformities
were more common. Correlation
between shape of thorax and body height
within one type of OI was not expressed.
The circumference of thorax was relatively
big in severe cases. There was no significant
difference among types. The shape
of head didn´t diverse among OI types.
The interpretation of BMI as an evidence
about nutrition status was discussable
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