Developmental disorders(MUSCULOSKELETAL)


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Developmental disorders(MUSCULOSKELETAL)

  1. 1. DEVELOPMENTAL DISORDERS Variety of gene defects may cause almost identical clinical syndromes…
  2. 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. 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. 4. PHYSEAL & METAPHYSEAL CHANGES 1) Hereditary Multiple Exostosis (Diaphyseal Aclasis) 2) Achondroplasia 3) Hypochondroplasia 4) Dyschondrosteosis 5) Metaphyseal Chondrodysplasia (Dysostosis) 6) Dyschondroplasia(Enchondromatosis/Ollier’s disease) 7) Mafucci’s syndrome
  5. 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. 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. 7. Abnormality of endochondral longitudinal growth, tubular bone shortening. Membrane bone formation(skull) is unaffected. Treatment: under cord compression, operative correction.
  8. 8. Hypochondroplasia • Mild form of achondroplasia • Stocky individuals • Xray : pelvis flattening thickening of long bones Treatment: Limb lengthening
  9. 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 madelung’s deformity of wrist Treatment: operative
  10. 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. 11. SCHMID TYPE CLASSICAL FEATURES (autosomal dominant)
  12. 12. McKUSICK TYPE (autosomal recessive) Associated with sparse hair growth
  14. 14. Dyschondroplasia /Enchondromatosis/Ollier’s 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. 15. Mafucci’s syndrome(rare) characterised by multiple enchondromas. Soft tissue haemangiomas (skin/viscera). Malignant changes in soft tissue and bone lesions.
  16. 16. EPIPHYSEAL CHANGES 1) Multiple Epiphyseal Dysplasia (MED) 2) Spondyloepiphyseal Dysplasia (SED) 3) Dysplasia Epiphysealis Hemimelica (Trevor’s disease) 4) Chondrodysplasia Punctata (slipped epiphysis) or (Conradi’s disease)
  17. 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. 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
  20. 20. DYSPLASIA EPIPHYSEALIS HEMIMELICA (TREVOR’S 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. 21. CHONDRO DYSPLASIA PUNCTATA (SLIPPED EPIPHYSES) or (CONRADI’S 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. 22. Stippled epiphyses
  23. 23. DIAPHYSEAL CHANGES 1) Metaphyseal Dysplasia (Pyle’s disease) 2) Craniometaphyseal Dysplasia 3) Osteopetrosis (Marble’s bones)(Albers Schonberg disease) 4) Diaphyseal Dysplasia (Engelmann’s) or (Camurati’s disease) 5) Craniodiaphyseal Dysplasia 6) Pyknodysostosis 7) a) Melorheostasis (Leri’s disease) (Candle bones) b) Osteopoiklosis (Spotted bones) c) Osteopathia striata (Stripped bones)
  24. 24. METAPHYSEAL DYSPLASIA (PYLE’S DISEASE) Autosomal Recessive. significant feature is genu valgum. X-ray : bottle shaped distal femur/proximal tibia (Erlenmeyer Flask Deformity)
  25. 25. Erlenmeyer flask “Bottle shape” distal femur/proximal tibia
  26. 26. Craniometaphyseal Dysplasia • Autosomal dominant • Proximal forehead(thickening of skull & mandible.) • Large jaw • Squashed nose • Foraminal occlusion may occur.
  27. 27. Craniometaphyseal dysplasia
  28. 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
  33. 33. DIAPHYSEAL DYSPLASIA (ENGELMANN’S or CAMURATI’S DISEASE) • Rare • X-ray : • Fusiform widening of bones • sclerosis of shaft of long bones • muscle pain/weakness • waddling gait
  34. 34. Camurati’s disease
  35. 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. 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. 37. CANDLE BONES (MELORHEOSTASIS / LERI’S 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. 38. OSTEOPOIKLOSIS (SPOTTED BONES) X-Rays: white spots through skeleton
  39. 39. STRIPPED BONES (OSTEOPATHIA STRIATA) • X-RAYS : • Inceased density parallel to shaft. • Radiates like a fan in pelvis
  40. 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. 41. SPONDYLOMETAPHYSEAL DYSPLASIA • Commonest • platyspondyly • kyphoscoliosis
  42. 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. 43. DIASTROPHIC DYSPLASIA Cartilage affected Dwarf, distorted, hand deformity (hitch hiker’s thumb) Club feet Joint contractures, dislocations, Cauliflower ears Cleft palate Spinal fusion Respiratory distress (due larynx cartilage)
  44. 44. CLEIDO-CRANIAL DYSPLASIA Hypoplasia of clavicle Flat bones Short, large head, Frontal prominence, Flat face, drooping shoulder
  45. 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. 46. CRANIOFACIAL DYSPLASIA • Odd face appearance • Cranial suture fusion • Exophthalamus • Mental retardation • Hand/feet abnormalities • Apert’s syndrome (egg shape head) • Acrocephalosyndactyly • Syndactyly of rays
  47. 47. CONNECTIVE TISSUE DISORDERS (Hereitable defects of Collagen synthesis) 1) Generalized Joint Laxity (familial) 2) Marfan’s syndrome 3) Ehler’s Danlos syndrome 4) Larsen’s syndrome 5) Osteogenesis imperfecta (brittle bones) 6) Fibrodysplasia Ossificans progressiva (Myositis Ossificans progressiva) 7) Neurofibromatosis
  48. 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. 49. MARFAN’S 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. 50. EHLERS DANLOS SYNDROME (dominant) Abnormality in collagen & elastin c/f: unusual skin laxity, joint hyper mobility, vascular fragility,hypotonia
  51. 51. LARSEN’S 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. 52. OSTEOGENESIS IMPERFECTA (BRITTLE BONES) Commonest genetic disorder of bone Type 1 collagen (abnormal synthesis & structure) Abnormalities of bones, teeth, sclerae and skin c/f: Osteopenia Liability to fracture Laxity of ligaments Blue sclerae Dentinogenesis imperfecta (crumbling teeth)
  53. 53. FIBRODYSPLASIA OSSIFICANS PROGRESSIVA (MYOSITIS OSSIFICANS PROGRESSIVA) Characterised by ossificans of muscle connective tissue (trunk mostly) Starts with fever & inflammation in early childhood Associated : shortening of big toe & thumb
  54. 54. NEUROFIBROMATOSIS • Commonest gene disorder affecting skeleton • Type 1 (NF 1) = VON Reckling hausen’s disease • (abnormality is in the gene which codes for neurofibromin on chromosome 17) characteristic lesions are --- schwann cell tumors(neuro fibromata) patches of skin pigmentation (café-au-lait spots)
  55. 55. Type 2 rare (gene defect which codes for schwannomin on chromosome 22) Scoliosis & soft tissues overgrowth (elephantiasis) Vertebral anamolies (scalloping of posterior aspects of vertebral bodies, erosion of pedicle,pencilling of ribs, i.v. foramin enlargement)
  56. 56. METABOLIC DEFECTS (decreased enzyme control ---- genetic disorder) 1) Mucopolysaccharidases 2) Gaucher’s disease 3) Homocystinuria 4) Alkaptonuria 5) Congenital hyperuricaemia (Lesch-Nyhan syndrome)
  57. 57. Mucopolysaccharidases MPS • Due lack in enzyme, there will be stoppage in degradation pathway of proteoglycans (GAG) • C/F : all are autosomal recessive except Hunter’s syndrome (x linked) Short stature with vertebral deformity Facies coarseness Hepatosplenomegaly Mental retardation Out of 10 different disorders, 3 rare conditions are: Hurler’s Hunter’s Morquiobrailsford syndrome
  59. 59. HURLER’S SYNDROME • 2-3 Years (death in childhood) • Kyphosis • Protruding tongue • Hearing loss • Mental retarded • Poor speech • spatulate ribs/clavicles • Coxa valga • Cardiorespiratory problems
  61. 61. HUNTER’S SYNDROME • Less severe • X linked • Males affected • Appear at 3 year • Teenage death • (similar to hurler’s)
  62. 62. MORQUIOBRAILSFORDS SYNDROME • Walking delayed • Protuberant sternum • Hearing loss • Face unaffected • Genu valgum • Odontoid hypoplasia • Treatment : enzyme replacement, gene correction
  64. 64. Gaucher’s disease • Each tissue a cell dies, cell membrane releases glucocerbroside which binds with dglucose molecule. • This bond is split by an enzyme glucosylceramide betaglucosidase. Lack of enzyme causes accumulation/enlargement of marrow,spleen,liver • Rare form- cns affected causes death with in year • Subacute form- hepatosplenomegaly (neuro/skeletal abnormalities in childhood) • Chronic form- pancytopenia
  65. 65. • c/f: Bone pain, osteonecrosis(femur), distal femur(erlenmeyer flask shape) Treatment: symptomatic, enzyme replacement
  66. 66. c/f: Bone pain, osteonecrosis(femur), distal femur(erlenmeyer flask shape) Treatment: symptomatic, enzyme replacement
  67. 67. Homocystinuria • Deficiency of enzyme cystathionine beta synthetase and accumulation of homocysteine and methionine. • c/f: patients tall and thin (as in marfan’s disease) Osteoporosis, mental retardation, thromboembolic disease common Treatment: can be cured by pyridoxine (B6)
  68. 68. Alkaptonuria • Deficiency of enzyme homogentistic acid oxidase and accumulation of homogentistic acid & executed in urine. • C/f: • Alkaptonuria= urine turns dark • Ochronosis=cartilage + other connective tissues are grey stained • Calcification of IVD.
  69. 69. Congenital hyperuricaemia (Lesch-Nyhan syndrome) • Rare x-linked recessive • Absence of enzyme hypoxanthine guanine phospho ribosyl transferase (HGPRT) • Results in excessive uric acid and gout • c/f: • Young boys mental retardation and prone to self Mutilation (gnawing the ends of teeth) Mild cases with severe gout.
  70. 70. Thank you