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29284. SKELETAL DYSPLASIAS: DIAGNOSTICS AND TREATMENT . I. Ma ri k 1 , D. Zemkov a 1 ,2 , M . Kuklik 1 , R . Myslivec 1 , S . Petrasova 1 , O. Hudakova & A . Marikova 1 1 Ambulant Centre for Defects of Locomotor Apparatus, Olšanská 7, Prague 3, PC-130 00, Czech Republic

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I. Marik1, D.Zemkova1,2, M. Kuklik1, R. Myslivec1,

S. Petrasova1, O. Hudakova & A. Marikova1

1Ambulant Centre for Defects of Locomotor Apparatus, Olšanská 7, Prague 3, PC-130 00, Czech Republic

2Pediatr. Dept, University Hospital Motol, Charles University Prague,

V Úvalu 84, Prague 5, PC-152 00



molecular genetic causes

Abnormal biochemical characteristics of essential bone components: collagen, glykosaminoglycans, hydroxyapatite


Functional adaptation of bones (Frost 1995: Utah paradigma of bone physiology)

Teratogenic influence in critical sensitive periods of ontogenesis

Hormonal, metabolic

& enzymatic disorders

patients and methods
Patients and Methods
  • In years1994 – 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
Results Diagnostic achievements

In two unrelative families thetype 2 Collagenopathywas 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
Resultsof 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
Resultsof 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

  • 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.
  • 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.