Congenital disorders Z. Rozkydal P. Janíček Congenital abnormalities The child is born with them 1.Typical - genetic, chromosomes and genes abnormality familiar occurence 2. Atypical – not genetic embryonal damage during pregnancy Gene mutation Chromosomal disorders Autosomal dominant transmission Autosomal recessive transmission X-linked disorders Classification 1. Genetic disorders of cartilage and bone growth Achondroplasia, epiphyseal dysplasia..) 2. Collagen disorders Osteogenesis imperfecta, Marfan syndrom Neurofibromatosis .. 3. Enzyme defects Mucopolysacharidosis, Gaucher disease.. 4. Chromosome disorders Down syndrom .. Classification 1. Disturbance of the form (shape) 2. Disturbance of separation 3. Duplication 4. Gigantism 5. Hypoplasia 6. Congenital constrictions 7. General deformities 1. Disturbance of the form A. Transversal defects - terminal - intercalary B. Longitudinal defects - terminal - intercalary Vrozené vady - cong defekty 2 Terminal defects Vrozené vady - cong defekty1 Obr. 1 Obr. 2 Vrozené vady - cong-defekty 3 Intercalary defects Obr. 3 Focomelia Vrozené vady - cong-defekty 3 Obr. 4 Vrozené vady- aplasie ruky Congenital aplasia of fingers Obr. 5 Osteo- apláztie klavikuly Osteo- aplázie klavikuly 2 Dysostosis cleidocranialis Absence of clavicle Obr. 6 Vrozené vady-manus vara Congenital aplasia of radius - manus vara Obr. 7 Vrozené vady-manus vara 2 Correction surgery for manus vara Obr. 8 Vrozené vady- rozštěp ruky Cleft hand Obr. 9 Osteo-aplázie femuru Osteo- aplázie femuru 2 Aplasia of the femur Obr. 10 Obr. 11 Vrozené vady- cong defekt femoru Congenital aplasia of the femur Obr. 12 Vrozené vady- coxa vara cong Coxa vara congenita Obr. 13 Vrozené vady- coxa vara cong Coxa vara congenita After correction Vrozené vady - kong pakloub tibie Congenital nonunion of the tibia Obr. 15 Osteo- aplázie pector Osteo- pektor Aplasia of pectoral muscles Obr. 16 2. Disorders of separation Syndactylia Radioulnar synostosis synostosis of carpal bones Synostosis of vertebras Tarsal coalition Syndaktylia Obr. 17 Osteo-synostoza radiouln Radioulnar synostosis Obr. 18 Vrozené vady- koalice nohy Tarsal coalition Obr. 19 Small scapula Os omovertebrale Fixed rotation of scapula Limited movements Sprengel deformity - high scapula Osteo- Sprengel Obr. 20 Vrozené vady -nadpočetný prst 3. Duplication Polydaktylia Obr. 21 Polydaktylia Obr. 22 Polydaktylia Obr. 23 4. Gigantism Growth hormon disorders A- high stature (over 2 m) Gigantisms B- hypertrophy of a part of body macrodactylia H:\Výuka\somatotyp\Obrázek1.jpg Vrizené vady- gigantismus palce nohy Makrodactylia Obr. 25 5. Hypoplasia Brachydactylia Brachyphalangia Madelung deformity Talipes equinovarus Osteo-Madelung1 Osteo- Madelung2 Madelung deformity Obr. 26 Obr. 27 Frequent disorder Occurence 1/1000 Boys more often affected 1. Equinus of the ankle 2. Varus of the heel 3. Adduction of forefoot 4. Supination of the foot 5. Excavation of dorsum of the foot Talipes equinovarus Osteo- PEC Obr. 28 Positional Rigid Rigid with other deformities Talipes equinovarus Obr. 28 Vrozené vady- PEC 1 Vrozené vady- PEC rtg Normal PEC Pes equinovarus congenitus X ray Obr. 30 Vrozené vady- PEC cvičení Management Fysiotherapy – first 2 days Obr. 31 Vrozené vady - PEC sádrování First days after a birth Change- twice weekly 10 weeks- 3 months Correction of all deformities Splinting Obr. 32 Vrozené vady - PEC sádrování Splinting 4 weeks + correction of all deformities Achilotomy + 6 weeks plaster Denis- Brown splint 60 % succes 40 % surgery then necessary Ponseti method Obr. 32 Surgery Posterior capsulotomy + lenghtening of Achilles tendon Surgery- Turco, Mc Kay, Dwyer, Heymann, Bermann + Gartland. Aftertreatment- plaster, correction splints Vrozené vady- PEC resekce sub talo Triple arthrodesis After 15 years of age Vrizené vady- PEC invet Neglected pes equinovarus congenitus Obr. 33 Metatarsus varus congenitus Mild form of equinovarus deformity - adduction and supination of the forefoot Conservative and operative treatment Vrozené vady - PEC metatarsus adductus Osteo- adductus Obr. 35 Obr. 36 vrozené vady- konstrikce 6. Congenital constrictions Intrauterine development Obr. 37 Vrozené vady- pterygium colli Pterygium colli Obr. 38 Vrozené vady- torticolis musc Wry neck- torticollis muscularis congenita Trauma of sternocleidomasteoideus muscle during delivery Haematoma, tightening and fibrous shortening The head – rotated to the healthy side tilted to affected side Asymetry of the face Obr. 39 Torticolis musc Torticollis muscularis congenita Positioning Bandage Surgery General skeletal deformities A. osseous B. B. cartilage C. C. mesenchymal A. Osseous Osteogenesis imperfecta Osteopetrosis I. – V. types - letal (multiple fractures intrauterine) - tarda (fractures, deformities, kyphosis, kyfoscoliosis, blue eyes deafness (otosclerosis) Osteo- ostreogenesis imp1 Osteo- osteogenesis imp 2 Osteogenesis imperfecta Obr. 41 Obr. 42 Osteo- osteogenesis imp3 Osteo-osteogenesis imp4 Osteogenesis imperfecta Obr. 43 Obr. 44 Osteogenesis imperfecta Osteo-osteogeneiss imp5 Osteo-osteogensis imp5 Obr. 45 Obr. 46 Osteopetrosis Osteo-osteopetrosis Osteo- osteopetrosis Osteopetrosis Sclerotic and fragile bone Osteopoikilosis Obr. 47 Obr. 48 B. Cartilage Achondroplasia Multiple chondromatosis Multiple epipsyseal dysplasia Dwarfism- achondroplasia Osteo- achondroplasie Dysproportional short stature Long trunk, short extremities Normal mental condition Low function of growth plates with their premature closure Obr. 49 Osteo- spondyloepifys dysplasie osteo- spondyloepifys dyspl 2 Spondyloepifyseal dysplasia Disorder of enchondral growth and ossifications Deformity of epiphyseal region Affections of joints, platyspondylia Obr. 50 Obr. 51 Multiple osteochondromatosis Multiple osteochondroms Osteo- exostozy1 Osteo- exostozy2 Obr. 52 Obr. 53 C. Mesenchymal Arthrogryphosis congenita Neurofibromatosis Fibrous dysplasia M. Ehlers-Danlos Marfan syndrom Mucopolysacharidosis Arthrogyphosis congenita Osteo- artrogryphosis Change of muscles into fibrous and adiposis tissue Stiff joints In flexion In extension Normal mental condition Obr. 54 Neurofibromatosis Osteo- neurofibromatosis1 Multiple neurofibroms Caffe au lait patches Large naevus Hyperplasia Hypoplasia Obr. 55 Neurofibromatosis Osteo-neurofibr 4 Osteo- neurofibrom 2 Kyfoskoliosis Elefentiasis Obr. 56 Obr. 57 Vroz Neurofibromatosis Oedema Elefantiasis Haemagiomas Hyperplasia Hypoplasia Obr. 58 Vrozené vady- neurofibromatoza 2 Scoliosis Deformity of the pelvis Neurofibromatosis Obr. 59 Marfan syndrom Osteo- Marfan1 Tall stature Long extremities Long fingers Scoliosis Deformity of the sternum Aneurysma of the aorta Hearth failure Lens dystopy Gothic palate Obr. 60 Osteo-Marfan2 Osteo-Marfan3 Marfan syndrom Mesenchymal general laxity genu recurvatum Obr. 61 Obr. 62 Mucopolysacharidosis Morquio- Brailsford syndrom Hurler syndrom Hunter syndrom Osteo- Morquio Morquio- Brailsford syndrom Platyspondylia hyperkyphosis Short stature Short neck Pectus carinatum Weaknes of muscles Hip deformities Obr. 63 Occurence: 5 % of all children Czech republic: 80-120 diclocations/ year 3-5 time more often girls 20 % of dysplastic O.A. Developmental dysplasia of the hip Osteo- VDK1 VVKK-1 Perinatal and postnatal changes Genes for acetabular dysplasia Genes for joint capsule laxity Increased laxity- relaxin External forces Birth- pelvis first DDH Osteo- VDK1 Obr. 64 1.Dysplasia a- stable hip b- unstable hip steep osseous tectum late ossification of femoral head no decentration 2. Subluxation – head is subluxated 3. Dislocation- head is outside of the acetabulum DDH A stupně DDH a dysplasia, stable hip b dysplasia, unstable hip c subluxation d dislocation DDH A stupně DDH 2 AKH classification of DDH 1 stable dysplasia (preluxation) 2 unstable dysplasia 3 subluxation 4 dislocation 4.dislocation – head is outside of the acetabulum luxatio marginalis luxatio supracotyloidea luxatio iliaca Osteo- VDK2 Obr. 66 Ortolani abduction test (reduction) Dislocation tests: - Palmén test - le Damany test - Barlow test - High position of greater trochanter Femoral head is palpable under abductors or in groin region Symptoms in a newborn child- certain Osteo- VDK barlow2 Osteo- VDK Barlow1 Obr. 67 Limited abduction Asymetry of skin grooves Increased tonus of adductors Shortening of the extremity Symptoms in a newborm child - suspision Osteo-VDK4 Osteo- omezení abdukce Limping Shortening of the extremity Trendelenburg sign Lumbar hyperlordosis Rocking child in bilateral cases Symptoms in an older child VVKK-Trendel Obr. 70 Trendelenburg sign Graf classification 1a 1b II a II b II c II d III a III b IV VVKK-3 1- iliac bone 2- cartilago of lateral acetabulum 3- labrum acetabulare 4- joint capsule 5- femoral head 6- osseous tectum 7- inferior margin of the iliac bone Ultrasonography Obr. 71 A Graf 1 Graf classification- ultrasonography Ia, Ib normal IIa,b,c,d dysplasia IIIa,b subluxation IV dislocation Examination in Czech republic In the first week after birth- clinical examination + ultrasonography -Early onset of the treatment After 6 weeks – clinical examination + ultrasonography After 3 months- clinical examination + ultrasonograpy in a case of pathological finding- X ray VVKK-4 X-ray (after 3 months of age) Wiberg angle Shenton line Kopitz paralerogram Obr. 72 X-ray VVKK-1 Dislocation of the right hip Absent ossification of proximal epiphysis Obr. 73 VVKK-2 X-ray Dislocation of the right hip Femur is upwards and lateral Shenton line is disrupted No ossification of proximal epiphysis Obr. 74 Conservative management - closed reduction In the first month: reduction by gentle Ortolani manevuer- keep in abduction in Pavlik harness Keep in safe zone: 90-120º flexion 50-70º abduction Spontaneous reduction: up to 2- 3 months - abduction positioning (napkins) - Frejka pillow - Pavlik harness Functional treatment ( Frejka ) VVKK-5 VVKK-6 Frejka pillow Pavlik harness Obr. 75 Obr. 76 Over head traction VVKK-over head traction Obr. 77 1.2 weeks horizontal 2.4 weeks in fexion of 100º gradually increasing of abduction up to 70º buttock is slightly above the bed 3.Bilateral hip spica flexion 100º, abduction 50º for 6 weeks 4.Aftertreatment with Pavlik harness or abduction apparatus VVKK-spika VVKK--abd Hip spica Abduction apparatus Obr. 78 Obr. 79 Arthrography or MRI VVKK-artrografie1 Left hip Inverted limbus Constriction of joint capsule Obr. 80 Arthrography VVKK-artrografie2 Large inverted limbus Dichotomy of femoral head Obr. 81 Obstacles for reduction 1. Inverted limbus 2. Constriction of joint capsule 3. Hypertrophy of lig. capitis femoris 4. Ileopsoas tendon 5. Big anteversion of the femoral neck Osteo- VDK1 Obr. 82 Iliopsoas tendon Operative treatment: open reduction, Salter osteotomy VVKK-Salter Obr. 84 Removal of the obstacle Reduction into the acetabulum Pelvic osteotomy- Salter, Dega, Pemberton Shortening osteotomy of the femur Osteotomy of proximal femur -Shortening of the femur -Correction of CCD angle and anteversion Operative treatment Open reduction VVKK-otevř Open surgery- Zahradníček A IN Buchholz ogden Ischemic necrosis in DDH a normal b type I slight flatening c type II valgus deformity d type III severe flattening, varus neck e type IV medial part of epiphysis Buchholz and Ogden A CDH typy rtg A CDH typy rtg A CDH typy rtg A CDH typy rtg Type I Type II Type III Type IV. Shelf plasty Osteotomy of the pelvis Steel, Sutherland, Eppright, Chiari Osteotomy of the femur - varus - valgus - shortening - derotation Operative treatment Shelf plasty VVKK-tectum Obr. 87 VVKK-varizace Varus osteotomy Obr. 85 VVKK-valgizace Valgus osteotomy Obr. 86 VVKK-Sutherland, Steel, Eppright Sutherland Steel Eppright Osteotomy of the pelvis Obr. 88 Chiari osteotomy of the pelvis Ch- schéma operace Obr. 89 Consequences of DDH in adults vdk5 Dislocation Subluxation Dysplasia Obr. 65 Consequences of DDH Ischemic necrosis of femoral head Residual deformity Damage of the labrum vdk3 Obr. 90 A CDH typy rtg Consequences of DDH Shortening of the extremity Pain Limited movements Limping Weak muscles arround the hip Dysplastic O.A. Dyscomfort Walking aids vdk1 Obr. 91 vdk7a copy Consequences of DDH vdk2