= Developmental disorders of chondro-osseous tissue

Transcription

1 = Developmental disorders of chondro-osseous tissue

2 Common Orthopedic Problems Dwarfism

3 Short Stature Pathologic Short Stature Normal Variant Short Stature Proportionate Short Stature Midget Endocrine/nutritional Hypophosphatasia Dwarf Disproportionate Short Stature Short-Trunk Skeletal dysplasia Cretinism Short-Limb Rhizomelic Mesomelic Acromelic

4 Dwarfism Limb deformity

5 Dwarfism Limb deformity Spine deformity

6 Flexed Dwarfism Limb deformity Spine deformity C1-C2 instability Extended

7 Dwarfism Limb deformity Spine deformity C1-C2 instability Precocious osteoarthritis M/30; MED

8 Genetic Defects in Skeletal Dysplasia Matrix protein Type I collagen : OI, EDS type VII Type II collagen : SEDC, Kniest, Stickler Type III collagen : EDS Type IX collagen : MED Type X collagen : MCD Schmid type Type XI collagen : Stickler, OSMED COMP : PsACH, MED Fibrillin : Marfan

9 Receptor FGFR3 : ACH, HCH, TD PTH/PTHrP receptor : MCD Jansen type GNAS1 : McCune-Albright syndrome Transcription factor Cbfa1 : CCD Others Cell memb sulfate transporter : DTD Enzymes : MPS

10 Achondroplasia Pseudoachondroplasia Multiple epiphyseal dysplasia Metaphyseal chondrodysplasia, Schmid type Osteogenesis imperfecta Morquio disease

11 Achondroplasia Rhizomelic short-limb dwarfism (132/122cm) AD : FGFR-3 Typical face : clinical Dx at birth Normal intelligence and fertility

12 Orthopaedic Problems Hypotonia at infancy Short stature Thoracolumbar kyphosis at infancy Genu varum Spinal stenosis

13 Hypotonia at infancy Short stature Thoracolumbar kyphosis at infancy Genu varum Spinal stenosis

14 Hypotonia at infancy Short stature Thoracolumbar kyphosis at infancy Genu varum Spinal stenosis

15 Management Posterior decompression for spinal stenosis Corrective osteotomy for limb deformity Limb lengthening Genetic counseling and prenatal diagnosis Growth hormone therapy : controversial Gene therapy (?)

16 Limb Lengthening in Achondroplasia Soft tissue tolerance Osteogenesis is not affected by the mutation. Unaffected articular cartilage Short-limb dwarfism Rare systemic problem & good intelligence Good Candidate

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19 Type II Collagenopathy Mutation in type II collagen gene Axial skeleton >> distal extremity Short trunk dwarfism Associated with cleft palate, ocular problem Spondyloepiphyseal dysplasia congenita Kniest-Stickler dysplasia

20 A family with Kniest Dysplasia

21 A family with Kniest Dysplasia

22 A family with Kniest Dysplasia

23 A family with Kniest Dysplasia

24 Pseudoachondroplasia- Multiple Epiphyseal Dyplasia Family Gene COMP COL9A2 PsACH Disease COL9A3 MED MTLN3

25 Pseudoachondroplasia Normal at birth Short-limb dwarfism in 2 years Normal head and face Spondyloepimetaphyseal dysplasia

26 Pseudoachondroplasia Normal at birth Short-limb dwarfism in 2 years Normal head and face Spondyloepimetaphyseal dysplasia Short fingers without trident deformity Lower extremity angular deformity with ligamentous laxity Spine deformity Precocious osteoarthritis

27 Pseudoachondroplasia

28 Pseudoachondroplasia

29 Multiple Epiphyseal Dysplasia Slight to moderate short stature (145~170cm) Multiple epiphyseal dysplasia Short metacarpals and phalanges Scheuermann-like lesion in some cases

30 Multiple Epiphyseal Dysplasia Limb deformity LCP-like radiographs True AVN of the femoral head Precocious osteoarthritis

31 Orthopedic Problems Limb deformity LCP-like radiographs True AVN of the femoral head Precocious osteoarthritis

32 Orthopedic Problems Limb deformity LCP-like radiographs True AVN of the femoral head Precocious osteoarthritis

33 Metaphyseal Dysplasia Family Skeletal change confined to the metaphyses Heterogenous, genetically and phenotypically Schmid type Jansen type McKusick type Shwachman syndrome Others

34 MCD, Schmid type Mild to moderate short stature (130~160cm) AD: type X collagen gene mutation Bow leg with waddling gait in 2nd year

35 MCD, Schmid type Rickets-like radiologic finding Coxa vara, genu varum, rib flaring

36 MCD, Schmid type No precocious osteoarthritis Normal intelligence and life expectancy Candidate for limb lengthening

37 Osteogenesis Imperfecta Generalized osteoporosis frequent fracture Genetically and phenotypically diverse Mutation in type I collagen, in most cases

38 Classification Looser (1906) : congenita vs. tarda Shapiro (1985) Congenita Survival Ambulatory - A Long bone deformity (+) 6% 0% - B Long bone deformity (-) 92% 33% Tarda - A 1st fracture before walking 67% - B 1st fracture after walking 100% Sillence (1979)

39 Sillence Classification Type I: mild, AD, blue sclera Type II: perinatal lethal, AD or AR, blue sclera Type III: severe, AD (or AR), short stature, wheel-chair bound Type IV: intermediate, AD, variable Type V Type VI Type VII

40 Clinical Manifestation Fracture rare in neonatal period constant from childhood to puberty decreased incidence after puberty Joint laxity Blue sclera Sillence type I : distinctly blue throughout life DDx. : physiologic blue sclera at infancy

41 Clinical Manifestation Dentinogenesis imperfecta soft, translucent, brownish teeth Middle ear deafness in the 2 nd decade Cardiovascular Proportionate short stature

42 Radiologic Findings Generalized osteopenia Trefoil pelvis Misshapen skull Wormian bones Platyspondyly or codfish vertebrae

43 Radiologic Findings Generalized osteopenia Trefoil pelvis Misshapen skull Wormian bones Platyspondyly or codfish vertebrae

44 Radiologic Findings Generalized osteopenia Trefoil pelvis Misshapen skull Wormian bones Vertebral collapse

45 Management Acute fracture prevent malunion prevent aggrevation of osteoporosis internal fixation : IM nailing >> plate and/or screw

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48 Multiple Osteotomy with IM Nailing

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50 Bisphosphonate treatment : Suppress osteoclastic bone resorption Increase bone mineral density Decrease pain, fatigue, apprehension Decrease fracture frequency

51 Scoliosis Bracing : not effective Early fusion with segmental instrumentation technically demanding high operative risk

52 Mucopolysaccharidoses Group of genetic diseases with inborn error of mucopolyssachrides metabolism Common radiologic findings Dysostosis multiplex Various clinical manifestation Dx by enzyme assay AR in most diseases cf. XR in Hunter

53 Morquio Disease (MPS IV) Normal intelligence and life expectancy Short stature (<125cm) C1-2 instability Genu valgum

54 Orthopaedist for Skeletal Dysplasia Correct diagnosis A member of a team Orthopedic intervention Spine stabilization Deformity correction Limb lengthening Joint reconstruction Arthroplasty

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