Developmental disorders(MUSCULOSKELETAL)

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Text of Developmental disorders(MUSCULOSKELETAL)

  • 1. DEVELOPMENTAL DISORDERS Variety of gene defects may cause almost identical clinical syndromes

2. DEVELOPMENTAL DISORDERS CHONDRO-OSTEODYSTROPHIES (Disorders of Cartilage & Bone growth) CONNECTIVE TISSUE DISORDERS (Heritable defects of Collagen synthesis) METABOLIC DEFECTS (decreased enzyme control ---- genetic disorder) 3. Dysplasias with Physeal & Metaphysea l changes Dysplasias with Epiphyseal changes Dysplasias with Diaphysea l changes Combined & mixed Dysplasias CHONDRO- OSTEODYSTROPHIES (Disorders of cartilage & bone growth) 4. PHYSEAL & METAPHYSEAL CHANGES 1) Hereditary Multiple Exostosis (Diaphyseal Aclasis) 2) Achondroplasia 3) Hypochondroplasia 4) Dyschondrosteosis 5) Metaphyseal Chondrodysplasia (Dysostosis) 6) Dyschondroplasia(Enchondromatosis/Olliers disease) 7) Mafuccis syndrome 5. Hereditary Multiple Exostosis Hard lumps (enlarge later) at ends of long bones and along apophyseal borders of scapula / pelvis. (lumps pressure on nerve/vessels). severely affected bones become short. Typical: Wrist ulnar deviation, Radius bowing/subluxation, Valgus knees/ankles Unrestricted transverse growth of cartilagenous physis (growth late) Exostosis Treatment: Removal of exostosis. Osteotomy for deformities . 6. Achondroplasia (commonest short stature) Stunted growth, limbs short proximal segment/large skull with prominent forehead and saddle shaped nose Fingers stubby(trident hands) Joint laxity Thoracolumbar kyphosis in (infants) disappears later in a year Trunk longer than limbs (childhood) Back lordosis, buttock prominent (adulthood) vetebral pedicles shortening- ivdp/stenosis 7. Abnormality of endochondral longitudinal growth, tubular bone shortening. Membrane bone formation(skull) is unaffected. Treatment: under cord compression, operative correction. 8. Hypochondroplasia Mild form of achondroplasia Stocky individuals Xray : pelvis flattening thickening of long bones Treatment: Limb lengthening 9. Dyschondrodystosis Disproportionate shortening of limbs. Middle segments (forearm/leg) are affected. stature reduced but not as in achondroplasia. Xray: short forearm/leg bow radius madelungs deformity of wrist Treatment: operative 10. Metaphyseal chondrodysplasia (dysostosis) Short limb dwarfism Resembles rickets Bilateral coxa vara Bowed legs Waddling gait Deformities @ hip/knee Sub types: SCHMID McKUSICK JANSEN 11. SCHMID TYPE CLASSICAL FEATURES (autosomal dominant) 12. McKUSICK TYPE (autosomal recessive) Associated with sparse hair growth 13. JANSEN TYPE (RARE SPORADIC) PRESENT WITH DEAFNESS 14. Dyschondroplasia /Enchondromatosis/Olliers disease Rare but easily recognised Defective transformation of physeal cartilage into bone unilateral short limb Valgus/varus deformity knee/ankle Shortened ulna Bowing radius Crippled hand (Fingers/toes have multiple enchondromata characteristic of disease) 15. Mafuccis syndrome(rare) characterised by multiple enchondromas. Soft tissue haemangiomas (skin/viscera). Malignant changes in soft tissue and bone lesions. 16. EPIPHYSEAL CHANGES 1) Multiple Epiphyseal Dysplasia (MED) 2) Spondyloepiphyseal Dysplasia (SED) 3) Dysplasia Epiphysealis Hemimelica (Trevors disease) 4) Chondrodysplasia Punctata (slipped epiphysis) or (Conradis disease) 17. Multiple Epiphyseal Dysplasia Mild anatomical abnormalities to severe crippling condition Vertebrae are not at all affected (slightly) Lower limbs short compared to trunk Waddling gait Hip/knee pain In hips mistaken to perthes disease @ maturity femoral/humerus head/condyles flattened Treatment: osteotomy/corrective /reconstructive surgery. 18. SPONDYLO EPIPHYSEAL DYSPLASIA Vertebral changes(platyspondyly) Delayed ossification (irregular ring epiphyses) Indentation of endplates(schmorl nodes) Sub types: SED Congenita (autosomal dominant) infancy, neck hardly present, barrel chest, short limbs, odontoid hypoplasia scoliosis/lordosis SED Tarda (x-linked recessive) diagnosed only after 5 years barrel chest backache 19. CONGENITA TARDA 20. DYSPLASIA EPIPHYSEALIS HEMIMELICA (TREVORS DISEASE) Hemi dysplasia (only one limb) or (one half medial/lateral) Mostly knee/ankle (mostly in boys) Bone swelling on one side of the joint. Treatment: Excess bone removed. 21. CHONDRO DYSPLASIA PUNCTATA (SLIPPED EPIPHYSES) or (CONRADIS DISEASE) Multisystem disorder Facial abnormalities, vertebral anamolies, Asymmetrical epiphyseal changes, bone changes Severe cases (cardiac abnormalities, cataracts, mental retardation) X-ray: punctate stippling of cartilagenous epiphyses & apophyses upto 4 years, later disappear and follow epiphyseal irregularities and dysplasia. 22. Stippled epiphyses 23. DIAPHYSEAL CHANGES 1) Metaphyseal Dysplasia (Pyles disease) 2) Craniometaphyseal Dysplasia 3) Osteopetrosis (Marbles bones)(Albers Schonberg disease) 4) Diaphyseal Dysplasia (Engelmanns) or (Camuratis disease) 5) Craniodiaphyseal Dysplasia 6) Pyknodysostosis 7) a) Melorheostasis (Leris disease) (Candle bones) b) Osteopoiklosis (Spotted bones) c) Osteopathia striata (Stripped bones) 24. METAPHYSEAL DYSPLASIA (PYLES DISEASE) Autosomal Recessive. significant feature is genu valgum. X-ray : bottle shaped distal femur/proximal tibia (Erlenmeyer Flask Deformity) 25. Erlenmeyer flask Bottle shape distal femur/proximal tibia 26. Craniometaphyseal Dysplasia Autosomal dominant Proximal forehead(thickening of skull & mandible.) Large jaw Squashed nose Foraminal occlusion may occur. 27. Craniometaphyseal dysplasia 28. OSTEOPETROSIS (MARBLE BONES/ ALBERS SCHONBERG DISEASE) Thickening & increased density of bones Two types a) osteopetrosis tarda seldom symptoms, discovered in adulthood(after fracture/x-ray), vertebral end plates sclerosed & shows stripped appearance (Rugger- Jersey Spine) b) osteopetrosis congenita rare (autosomal recessive) pancytopenia, haemolysis, anaemia, hepatosplenomegaly, optic nerve palsy/facial nerve palsy, Repeated haemorrhage leads to death 29. OSTEOPETROSIS TARDA 30. OSTEOPETROSIS AUTOSOMAL DOMINANT 31. OSTEOPETROSIS CONGENITA (AUTOSOMAL RECESSIVE) 32. OSTEOPETROSIS CONGENITA 33. DIAPHYSEAL DYSPLASIA (ENGELMANNS or CAMURATIS DISEASE) Rare X-ray : Fusiform widening of bones sclerosis of shaft of long bones muscle pain/weakness waddling gait 34. Camuratis disease 35. CRANIODIAPHYSEAL DYSPLASIA Rare , autosomal recessive Cylindrical expression of bone Prominent facial contours in childhood- striking features - LEONTIASIS Foraminal occlusion may cause deafness/ visual impairment. 36. PYKNODYSOSTOSIS Short stature Frontal bossing Mandible underdevelopment Abnormal dentition X-Ray: skull enlarged with wide sutures/ open fontanellae Facial/mandible hypoplastic --- triangled facies 37. CANDLE BONES (MELORHEOSTASIS / LERIS DISEASE) Rare, Non Familial Discovered accidently with pain & stiffness of limb X-ray : Patch of sclerosis appears as a burning candle with wax that congeals 38. OSTEOPOIKLOSIS (SPOTTED BONES) X-Rays: white spots through skeleton 39. STRIPPED BONES (OSTEOPATHIA STRIATA) X-RAYS : Inceased density parallel to shaft. Radiates like a fan in pelvis 40. COMBINED & MIXED DYSPLASIAS shows mixture of epiphyseal, metaphyseal & vertebral defects 1) Spondylometaphyseal Dysplasia 2) Pseudo Achondroplasia 3) Diastrophic Dysplasia (recessive) 4) Cleidocranial Dysplasia (dominant) 5) Nail-Patella syndrome (dominant) 6) Craniofacial Dysplasia 41. SPONDYLOMETAPHYSEAL DYSPLASIA Commonest platyspondyly kyphoscoliosis 42. PSEUDO ACHONDROPLASIA Rare Short limb Dwarf with ligament laxity c/f appear after 1 or 2 years Increased lordosis Bow leg Ovalshape vertebrae 43. DIASTROPHIC DYSPLASIA Cartilage affected Dwarf, distorted, hand deformity (hitch hikers thumb) Club feet Joint contractures, dislocations, Cauliflower ears Cleft palate Spinal fusion Respiratory distress (due larynx cartilage) 44. CLEIDO-CRANIAL DYSPLASIA Hypoplasia of clavicle Flat bones Short, large head, Frontal prominence, Flat face, drooping shoulder 45. NAIL-PATELLA SYNDROME (dominant) Nail hypoplasia, Patella absent/small Radius head subluxed Elbows lack extension Congenital nephropathy Iliac blades have bony protrubrence (horns) 46. CRANIOFACIAL DYSPLASIA Odd face appearance Cranial suture fusion Exophthalamus Mental retardation Hand/feet abnormalities Aperts syndrome (egg shape head) Acrocephalosyndactyly Syndactyly of rays 47. CONNECTIVE TISSUE DISORDERS (Hereitable defects of Collagen synthesis) 1) Generalized Joint Laxity (familial) 2) Marfans syndrome 3) Ehlers Danlos syndrome 4) Larsens syndrome 5) Osteogenesis imperfecta (brittle bones) 6) Fibrodysplasia Ossificans progressiva (Myositis Ossificans progressiva) 7) Neurofibromatosis 48. Generalized Joint Laxity Joint hyper mobility passive hyper-extensive of mcp joints beyond 90 degree. passive stretching of thumb to touch front forearm Hyperextension of elbows & knees Ability to bend forward & touch flat on floor with hands 49. MARFANS SYNDROME Due to cross linkage defect in collagen and elastin (genetic mapping is fibrillin gene on chromosome 15) c/f : Tall with long legs and arms Chest pectus excavatum(flat/hollowing) Digits long(spider fingers- arachnodactyly) Spine spondylolisthesis, scoliosis Flatfeet Associated: high arched palate, hernia, lens dislocation, retinal detachment, aortic aneurysm, mitral/aortic incompetence, joint laxity 50. EHLERS DANLOS SYNDROME (dominant) Abnormality in collagen & elastin c/f: unusual skin laxity, joint hyper mobility, vascular fragility,hypotonia 51. LARSENS SYNDROME Recessive Severe forms in infancy joint laxity, hip dislocation, knee instability, radial head subluxation, equinovarus feet, dish face Spine deformities in older children 52. OSTEOGENESIS IMPERFECTA (BRITTLE BONES) Commonest genetic disorder of bone Type 1 collagen (a