3+4+Supplementum/2012 - Společnost pro pojivové tkáně

the pathogenesis of individual disorders.
Aims of orthotic and surgical treatment
are based on biomechanical knowledge of
growth of healthy and dysplastic skeleton,
correction of long bones and spine deformities,
shortening and/or lengthening of long
bones and reconstruction of hand and foot
malformations.
Patients and methods
In years 1994–2011 the authors diagnosed
112 nosologic units that are categorized
into 36 groups (according to
Nosology and Classification of Genetic
Skeletal Disorders: 2010 Revision). The
cohort contains 619 probands. For classification
purposes the disorders are still
identified by clinical features and radiographic
appearance that are the basis for
aspect of closely specialized molecular
genetic examinations. For the majority of
the above mentioned patients the team
of Ambulant Centre ensures preventive
and therapeutic care and comprehensive
treatment from birth to unlimited period
of time. Clinical, anthropological, genetic
and radiological examination together
with laboratory examination (including
markers of bone metabolism) and also
histological, histochemical, histomorphometry
and electronmicroscopical investigation
and dual energy densitometry were
the basic prerequisite to specify diagnosis
and monitor both course of bone disorders
and effect of individual comprehensive
treatment (paediatric, osteologic, orthoticprosthetic,
orthopaedic and surgical, etc.).
The early right diagnosis is a prerequisite
of the most suitable therapy. The lecture
is documented with long term results of
orthopaedic and orthotic treatment.
discussion
338 14 th Prague-Sydney-Lublin
The final shape of skeleton of SD
patients is consequence of genetic defects,
mechanical stimuli and functional adaptation
of bones. Skeletal and joint deformities
or malformations are considered as arthritic
disposition and lead to biomechanical
severe deformities of skeleton with premature
osteoarthritis and osteoporosis and/or
osteosclerosis. Disposition to osteoporosis
and/or osteosclerosis is pathognomonic
symptom for concrete SD. Medicament
therapy is suitable only exceptionally at
some metabolic osteopathies. Symptomatic
treatment of skeletal dysplastic deformities
in childhood is early correction of both
bone deformities (by physiotherapy, bracing,
surgical procedures, etc.) and bone
metabolism (e.g. calciotropic drugs) with
the aim to achieve an individual ideal peak
bone mass and optimal biomechanical
properties of skeleton in adulthood.
Conclusion
Credo of authors are biomechanical
aspects of treatment. They are familiar so
with treatment of bone metabolic disorders
as with common and reconstructive
orthopaedic surgical procedures in disabled
children and adults. They have many
years experience in guided growth surgery
(total epiphysiodesis and partial or hemiepiphysiodesis),
intramedullary nailing in
osteogenesis imperfecta children and bone
lengthening.
key words: skeletal dysplasias, genetic
bone disorders, medicament, surgical and
orthotic treatment