Ortopedická protetika Praha sro - Společnost pro pojivové tkáně

vertebrae, asymmetrical fusions so-called
unsegmented unilateral or bilateral bars
or symmetrical blocks of vertebral bodies,
absent ribs or fused ribs. CSD occurs as
an isolated anomaly and cause scolioses,
kyphoses, lordoses, kyphoscolioses, lordoscolioses,
blocks of vertebral bodies. The
certain localisation of CSD can be pathognomonic
or major component of syndromic
association. It includes spondylocostal and
spondylothoracic dysplasia, ischiovertebral
dysplasia, cerebrofaciothoracic dysplasia or
they are a part of other genetic syndromes,
e.g. Robinow syndrome, Klippel-Feil syndrome,
Sprengel sequence, etc. There are
not rare nosologic units of so-called oculo-
-auriculo-vertebral spectrum with severe
involvement of spine and facial stigmatization,
e.g. Goldenhar syndrome, VACTERL
association and Spondylocarpotarsal synostosis
syndrome where scoliosis is malignantly
progressive early in life and steadily
during the growth.
Multiple CSD and fusion of ribs are
seldom balanced in their distribution and
result in a severe congenital scoliosis that
is unrelentingly progressive with subsequent
growth. From the biomechanical
point of view the worst progression of
congenital scoliosis is caused by combination
of segmented hemivertebra and unsegmented
lateral bar. The worst kyphosis is
consequence of anterior unsegmented bar
and hemivertebra. Isolated hemivertebra
results in a short, relatively mild curvature
that is usually inconspicuous. Progression
of such a curvature is unlikely.
Systemic (developmental) spine deformities
(SSD) are a pathognomonic symptom
of some bone dysplasias (especially
those with predominant involvement of
spine e.g. pseudoachondroplasia, metatropic
dysplasia, spondyloepiphyseal dysplasia
congenita, etc.), metabolic disorders (e.g.
osteomalatic syndrome, idiopathic juvenile
osteoporosis, mucopolysaccharidoses and
oligosaccharidoses, etc.), collagen bone
diseases (e.g. osteogenesis imperfecta,
Marfan and Ehlers-Danlos syndromes) and
some genetic syndromes (e.g. Turner syndrome).
Pathogenesis of SSD is determined
by molecular genetic factors. Severity of
spine defects and/or deformities similarly
like at long bone deformities is influenced
by functional adaptation of bone tissue
according to previously defined mechanisms
of bone remodelling (Utah paradigm by
H. Frost, 1996).
The prognosis of congenital and systemic
spine deformities in any given child
may be difficult to predict and, therefore,
repeated clinical and radiographic examinations
at regular intervals are required
to choose the most appropriate form of
treatment. Our strategy is to begin with
physiotherapy, rehabilitation and bracing
as soon as possible and according to the
course of curvature (regular radiographic
follow up especially during growth spurt)
the decision for conservative and/or surgical
treatment is individually made.
An important pathognomonic sign of
SSD as well as CSD is secondary osteoporosis
of any degree. Growth (especially acceleration
of growth in puberty) is the most
suitable period for complex treatment of
SSD and also CSD that instead of mentioned
conservative and surgical treatment
includes monitored medication of suitable
calciotropic drugs. Treatment using calciotropic
drugs should be monitored by
examination of bone metabolism markers
and dual energy densitometry (DXA) with
application of child soft wear (at indicated
cases by histological, histochemical examination
and histomorphometry is carried
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