29284
SKELETAL DYSPLASIAS: DIAGNOSTICS
AND TREATMENT
I. Marik1, D. Zemkova1,2, M. Kuklik1, R. Myslivec1,
S. Petrasova1, O. Hudakova & A. Marikova1
1 Ambulant
2 Pediatr.
Centre for Defects of Locomotor Apparatus, Olšanská 7,
Prague 3, PC-130 00, Czech Republic
Dept, University Hospital Motol, Charles University Prague,
V Úvalu 84, Prague 5, PC-152 00
Introduction
molecular genetic causes
Abnormal biochemical characteristics
of essential bone components:
collagen, glykosaminoglycans,
hydroxyapatite
CHANGES IN
SHAPE AND
STRUCTURE OF
SKELETON
Hormonal, metabolic
& enzymatic disorders
Functional
adaptation of
bones (Frost 1995:
Utah paradigma of
bone physiology)
Teratogenic influence in
critical sensitive periods of
ontogenesis
Patients and Methods
• In years 1994 – 2009 in a cohort of 501 patients with
congenital systemic defects of locomotor apparatus the
authors diagnosed 101 nosologic units that were categorized
into 34 groups of SD (classification according to Superti-Furga
A, Unger S, and Nosology Group of the International Skeletal
Dysplasia Society. 2007. Nosology and Classification of
Genetic Skeletal Disorders: 2006 Revision. Am J Med
Genet. Part A 143A: s. 1-18).
• 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.
• Timing of surgical treatment is influenced by severity of the
defects and is different at isolated and systemic defects. The
timing is individually indicated with use of anthropological
examination and auxological assessment.
Results
Diagnostic achievements
In two unrelative families the
type 2 Collagenopathy was
identified:
Arg75Cys mutation (R75C
mutation)
Czech dysplasia
metatarsal type: another
type II collagen disorder.
Eur J Hum Genet, 2007, 15: 12691275 (Hoornaert, Marik,
Kozlowski, Cole, Le Merrer, Leroy,
Coucke, Sillence, Mortier)
Results of comprehensive treatment
1. FGFR-3 group: Achondroplasia
Result of lengthening:18.5 cm
Results of comprehensive treatment
11. Spondyloepi-(meta)-physeal dysplasias (SE/M/D) group:
SED tarda, X- linked
12 yrs. 2mo.
16 yrs.
Result of partial medial epiphyseodesis
of both distal femurs & distal tibias
Results of comprehensive treatment
35. Limb hypoplasia-reduction defects group: Fibular hemimelia
Predicted shortening
25-30 cm
+ 8 cm
+ 18 cm
Result of lengthening: 26 cm
Results of orthotic treatment
• Hemivertebra L2 & L5 on the right side
• The special brace with regulated bending pre-stressing, regime 23
hours. After 20 months of bracing correction of Cobb´s angle was 12°.
• Bone remodeling laws are true for physeal growth of congenital
wedge and hemiwedge vertebrae, too.
T12 - 33°- L7
2 yrs.
T12 - 21°- L7
Discussion
•
Skeletal dysplasias or disorders (SD) comprise the main part of constitutional
disorders of skeleton. Incidence is estimated 0.30 – 0.45 per 1000 live birth. In
last 10 years, rapid advances have been made in identifying chromosomal locus
and/or the molecular changes responsible for definition of conditions that help
further understand the pathogenesis of individual disorders.
•
Skeletal and joint deformities or malformations are considered as arthritic
disposition and lead to biomechanical severe deformities of skeleton with
premature osteoarthritis and osteoporosis.
•
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
• The final shape of skeleton of SD patients is
consequence of genetic defects, mechanical stimuli and
functional adaptation of bones.
• Diagnostics of BD is based on clinical, anthropological,
genetic (including molecular genetic) and radiological
examination together with laboratory examination and
dual energy densitometry - DXA.
• Radiological diagnostics is possible only in growth
period.
• Diagnosis of joint systemic disorders is necessary as
soon as possible.
• The aim of comprehensive care is to prepare
handicapped children for a dignified, meaningful and
satisfying life and help them to incorporate themselves
into society as individuals who can achieve their highest
potential.
• Authors declare that they have no conflict of interests.