29284
SKELETAL DYSPLASIAS: DIAGNOSTICS AND TREATMENT
I. Marik
1, D. Zemkova
1,2, M. Kuklik
1, R. Myslivec
1, S. Petrasova
1, O. Hudakova & A. Marikova
11
Ambulant Centre for Defects of Locomotor Apparatus, Olšanská 7, Prague 3, PC-130 00, Czech Republic
2
Pediatr. Dept, University Hospital Motol, Charles University Prague,
V Úvalu 84, Prague 5, PC-152 00
molecular genetic causes
CHANGES IN SHAPE AND STRUCTURE OF
SKELETON
Abnormal biochemical characteristics of essential bone components:
collagen, glykosaminoglycans, hydroxyapatite
Hormonal, metabolic
& enzymatic disorders
Teratogenic influence in critical sensitive periods of
ontogenesis
Functional adaptation of bones (Frost 1995:
Utah paradigma of bone physiology)
Introduction
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: 1269- 1275 (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
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 Fibular hemimelia
Predicted shortening 25-30 cm
+ 8 cm
+ 18 cm
Results of comprehensive treatment
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.