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´s syndrom •Neurofibromatosis .. • •3. Enzyme defects •Mucopolysacharidosis, Gaucher disease.. • •4. Chromosome disorders •Down syndrom .. •Classification • •1. Disturbance of a form •2. Disturbance of diferenciation •3. Duplicature •4. Gigantism •5. Hypoplasia •6. Congenital constrictions •7. General deformities •1. Disturbace of a 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 •Hypoplasia • •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 •hypoplasia of the femur •Obr. 12 Vrozené vady- coxa vara cong •Coxa vara congenita •Obr. 13 Vrozené vady- coxa vara cong •Coxa vara congenita •Obr. 14 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 differentiation • •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´s deformity •- high scapula Osteo- Sprengel •Obr. 20 Vrozené vady -nadpočetný prst •3. Polydactylia •Obr. 21 •Polydaktylia •Obr. 22 •Polydaktylia •Obr. 23 •4. Gigantisms • •Growth hormon disorders • •A- high stature (over 2 m) • Gigantismus • • •B- hypertrophy of a part of body • macrodactylia • Vrizené vady- gigantismus palce nohy •Macrodactylia •Obr. 24 •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 Achillis tendon • •Surgery- Turco, Mc Kay, Dwyer, •Heymann, Bermann + Gartland. • •Aftertreatment- plaster, correction splints • Vrozené vady- PEC resekce sub talo •Triple arthrodesis •Obr. 34 Vrizené vady- PEC invet •Neglected pes equinovarus congenitus •Obr. 33 •Metatarsus varus congenitus • •Mild form of equinovarus deformity •- adduction and supiation 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 strernum • •Aneurysma of the aorta •Hearth failure •Lens dystopy •Gothic patro • •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 often girls • •20 % of dysplastic O.A. • • •Developmental dysplasia of the hip Osteo- VDK1 VVKK-1 •Perinatal and postnatal •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 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 trochynter • •Femoral head is palpable •under abductors or in groin region •Symptoms in a newborn child- certain Osteo- VDK barlow2 Osteo- VDK Barlow1 •Obr. 67 • •Shortening of the extremity •Limited abduction •Asymetry of skin grooves •Increased tonus of adductors • • • •Symptoms in a newborm child •- suspicion Osteo-VDK4 Osteo- omezení abdukce •Limping •Shortening of the extremity •Trendelenburg sign •Lumbar hyperlordosis •Rocking child in •bilateral cases •Symptoms in a older child VVKK-Trendel •Obr. 70 Trendeleburg 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 VVKK-4 •X-ray •Wiberg angle Shenton line Kopizt 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 - Frejka pillow - Pavlik harness • •Functional treatment 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 of 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 •Obstacle 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 • •Removal of the obstacle •Shortening osteotomy of the femur •Reduction into the acetabulum •Pelvic osteotomy- •Salter, Dega, Pemberton • •Osteotomy of proximal femur •- CCD angle and anteversion • •Operative treatment •Open reduction VVKK-otevř •Obr. 83 Otevřená repozice podle • Zahradníčka •Salter osteotomy VVKK-Salter •Obr. 84 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 • •Literature •Janíček, P.: Ortopedie. Lékařská fakulta MU v Brně, • 2001. •Spoluautoři: Dufek, P., Chaloupka, R., Krbec, M., • Poul, J.,Procházka, P., Rozkydal, Z. •Figures •Edmonson A.S., Crenshaw, A.H. : Campbell´s •Operative Orthopaedics. Sixth Edition, •The C.V. Mosby Company, 1980. •Obr. 10,11,14,18,33,34,37,39,40,58,59,73,74,78,80,84. • •Netter, F.: The CIBA collection of medical illustrations •Vol. 8, part. I, II., Ciba- Geigy Corporation, 1990. •Obr. 20,26,28,35,36,41,42,43,44,45,46,47,48,49,50,51, •52,53,54,55,56,57,60,61,62,64,66,67,68,69,81,82. • •Figures •Pauwels, F.: Atlas zur Biomechanik der gesunden und •krankem Hufte. Springer Verlag, Berlin-Heidelberg- •New York1973. •Obr.85,86. • •Reynolds, D.A.: Chiari innominate osteotomy in adults. •Technique, indications and contraindications. •J Bone J Surg 1986;68-B:45-54. •Obr. 89. •Figures •Turek, S.: Orthopaedics. J.B. Lippincott Company, •Third Edition, 1977 •Obr. 1,2,3,4,31,32. • •Frejka, B.: Základy ortopedické chirurgie. Avicenum •Praha, 1970 •Obr. 5,6,7,8,9,13,16,19,21,24,27,29,30,38,63,70,75,76, •77,79,83,87. • • •Janíček, P.: Ortopedie. Masarykova univerzita, 2001. •Obr. 72. •Hartofilakidis, G., Stamos, K. et al.: Congenital hip •Disease in adults. Classifications of acetabular •Deficiencies and operative treatment. •J Bone J Surg 1996; 78-A: 683- 692. •Obr. 65. •Figures