LET S NOT FORGET THESE SYNDROMES! SPORC 2017 Kevin Smit, MD, FRCSC Pediatric Orthopedic Surgeon Children s Hospital of Eastern Ontario
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1 LET S NOT FORGET THESE SYNDROMES! SPORC 2017 Kevin Smit, MD, FRCSC Pediatric Orthopedic Surgeon Children s Hospital of Eastern Ontario
2 Syndromes of Orthopaedic Importance Down Syndrome Neurofibromatosis Marfan Syndrome Morquio Syndrome Arthrogryposis Multiplex Congenita
3 DOWN SYNDROME
4 General Most common genetic chromosomal abnormality in humans Characteristic phenotypic features Orthopaedic anomalies Related to ligamentous laxity and joint hypermobiity
5 Classification Trisomy (95%) Advanced maternal age Recurrence rate 1 2 % Translocation (4%) Parental carrier 33% Recurrence rate 5 15% Mosaicism (1%)
6 Clinical Features Developmental delay Congenital Heart Disease Hypotonia / ligamentous laxity
7 Clinical Features Characteristic Facies Microbrachycephaly Lowset ears Overfolded external ears Upslanted epicanthal folds Brushfield spots (iris) Downturned mouth Protruding tongue
8 Clinical Features Hands Transverse palmar crease Curved 5 th fingers Feet Pes planus Great toe 2 nd toe gap
9 Clinical Features Hips Spontaneous / habitual dislocation SCFE High surgical complication rate Age 10
10 Clinical Features Spine Short neck Occipitoatlantal instability Atlantoaxial instability Scoliosis
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12 Controversies Atlanto axial instability Screening AAP Guideline 2011 routine radiologic evaluation of the cervical spine in asymptomatic children no longer is recommended XR c-spine if symptomatic Pre-Operative evaluation
13 Controversies Atlanto axial instability Treatment Indications Myelopathy, Myelomalacia, SAC <13, ADI >10 Techniques Harms, Transarticular screws, Sublaminar wires
14 Atlantoaxial Instability Surgical Complications Pseudarthrosis Persistent instability Myelopathy Neurologic injury Death
15 NEUROFIBROMATOSIS
16 Neurofibromatosis Disordered growth of nervous tissue Two forms: NF1 peripheral form Chromosome 17 Intracranial & intraspinal lesions Musculoskeletal abnormalities Autosomal dominant trait 1:4000 NF2 central form No musculoskeletal problems
17 Neurofibromatosis Diagnostic criteria
18 Orthopaedic Considerations 1. Congenital pseudarthrosis of the tibia (anterolateral bowing) I Dense medullary canal IIA Increased medullary canal width and tubulation defect IIB Cystic prefracture lesion IIC Fracture, cysts, and pseudarthrosis
19 Orthopaedic Considerations CPT Treatment Guidelines Orthoses congenital pre-pseudarthrosis Prevent fracture Bone grafting and IM rodding Most common, effective Vascularized fibular graft Compression / distraction histiogenesis Ilizarov technique Amputation
20 Orthopaedic Considerations Spinal Deformity Scoliosis 1. Dystrophic 2. Non-dystrophic Similar to AIS Kyphoscoliosis (risk of paraplegia) Atlantoaxial instability Cervical kyphosis Spondylolisthesis
21 Orthopaedic Considerations Spinal Deformity Dysmorphic Scoliosis
22 Orthopaedic Considerations Spinal Deformity Treatment All require preoperative MRI
23 MARFAN SYNDROME
24 Marfan Syndrome Common disorder 1: Connective tissue abnormality Genetic defect in glycoprotein fibrillin-1 (elastin) Multiple mutations Extensive phenotypic variability
25 Marfan Syndrome - Diagnosis Common disorder 1: Connective tissue abnormality Genetic defect in glycoprotein fibrillin-1 (elastin) Multiple mutations Extensive phenotypic variability
26 Marfan Syndrome - Diagnosis Primarily clinical Ghent criteria Major involvement in 2 different organ systems and involvement of a 3 rd Skeletal Neurologic (dural ectasia) Ocular Family/genetic history Cardiovascular
27 Skeletal Criteria Arachnodactyly Pectus carinatum Pectus excavatum (requiring surgery) Reduced UE / LE ratio; arm span/height ratio >1.05 Wrist and thumb signs Scoliosis Craniofacial findings
28 Skeletal Manifestations Overgrowth (of long bones) Pectus abnormalities Scoliosis Protrusio acetabulum Dural ectasia
29 Dural Ectasia Neurofibromatosis 1 Marfan syndrome Ehlers-Danlos syndrome Ankylosing spondylitis Achondroplasia Idiopathic Woon C. CMAJ 2010
30 Treatment Ophthalmologic Cardiovascular Beta blockers Orthopaedic Scoliosis Bracing usually not effective Growing rods in younger patients Surgery similar to idiopathic scoliosis Orthotics, epiphyseodesis, other
31 12F - Marfan s Syndrome- Premenarchal
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34 Scoliosis treatment Complications (common) Increased blood loss Dural tears Infection Pseudarthrosis
35 MORQUIO SYNDROME
36 Morquio Syndrome Most common mucopolysaccharidosis Type IV mucopolysaccharidosis (MPS) Type A galactosamine-6-sulfatase deficiency Type B beta-galactosidase deficiency Defective keratan sulfate degradation Found mainly in cartilage and corneas Interferes with cartilage at the growth plate Autosomal recessive disorder Diagnosis urine spot tests, ELISA
37 Skeletal Manifestations Odontoid hypoplasia Short trunk dwarfisim Scoliosis Kyphosis (severe gibbus) Rib flaring Pectus carinatum Joint abnormalities (genu valgum) Ligamentus laxity
38 Major Issues No developmental delay (other MPS) No course facial features (other MPS) Morbity and mortality Related to odontoid hypoplasia Atlantoaxial instability Cervical myelopathy
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40
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42 Orthopedic Treatment Odontoid hypoplasia Periodic screening radiographs Occiput C1 or C1 C2 decompression / fusion Prior to neurologic signs or symptoms Genu valgum Distal femoral osteotomy
43 ARTHROGRYPOSIS
44 General Uncommon Broad spectrum of diseases Amyoplasia Most common form Quadrimelic involvement Replacement of skeletal muscle by dense fibrous tissue and fat Inconsistent terminology > confusion about diagnosis and treatment
45 General Features Characteristics Non-progressive disorder Poorly developed limbs Thickened joint capsules contractures Intact sensory system Extensive differential diagnosis 150 different syndromes multiple congenital contractures
46 Upper Extremity Deformities Shoulders Adducted, internally rotated Elbow Extension contractures, occasional flexion, Radial head dislocation Forearm pronated Wrist Flexed, ulnar deviation Thumb Flexed, adducted (thumb-in-palm) Fingers Fusiform, usually extended, occasionally flexed
47 Upper Extremity Goals Two self-help skills Toileting (perineum) Feeding (mouth) Two mobility skills Push from a chair Use of crutches Hands should be able to come together
48 Upper Extremity Treatment Delay until 3 4 years of age Soft tissue releases Capsulotomies / capsulectomies Tendon transfers Triceps Pectoralis major Steindler flexorplasty Proximal row carpectomies Wrist arthrodesis Osteotomy humerus
49 Lower Extremity Deformities Hip Flexed, adducted, externally rotated Subluxation / dislocation Knee Extension contractures Occasional flexion Foot Talipes equinovarus (clubfoot) Vertical tali
50 Spine Deformities 33% incidence scoliosis C shaped thoracolumbar curve Paralytic pattern Congenital scoliosis rare Treatment Similar to idiopathic / neuromuscular scoliosis
51 Treatment Hip Deformities Soft tissue releases Capsulotomies / capsulectomies Tenotomies, lengthenings Open reduction (6 12 months) Osteotomies Femoral shortening Pelvic Immobilize in position of function
52 Treatment Knee Deformities Soft tissue releases Hamstring Posterior capsulotomy Quadriceps (extension contracture) Osteotomies Extension distal femur (adolescents)
53 Treatment Foot Deformities Ponseti technique Clubfoot Vertical talus Surgery Complete soft tissue release Verbelyi-Ogston procedure Decancellation talus and navicular Osteotomies and arthrodesis Talectomy
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