Congenital Bone & Joint Diseases

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Congenital Bone & Joint Diseases

  1. 1. Congenital Bone & joint Diseases By Dr.Abdullah bin Habeeballah bin Abdullah Juma F.R.C.S.Ed Associate Professor & Consultant Orthopaedic Surgeon
  2. 2. Introduction <ul><li>1. Genetic aspects of orthopaedics . </li></ul><ul><li>2. Bone Dysplasias. </li></ul><ul><li>3. Neuromuscular Diseases. </li></ul><ul><li>4. The Spine. </li></ul><ul><li>5. The Hip. </li></ul><ul><li>6. The Knee. </li></ul><ul><li>7. The Foot. </li></ul>
  3. 3. Continue……… <ul><li>8. Other Anomalies in the Extremities . </li></ul><ul><li>9. The Congenital Amputee . </li></ul><ul><li>10.Torsional deformities . </li></ul><ul><li>11.Juvenile Chronic Arthritis. </li></ul><ul><li>12.Bleeding Disorders. </li></ul><ul><li>13.Miscellaneous Conditions. </li></ul>
  4. 4. 1. Genetic Aspects of Orthopaedics <ul><li>Abnormalities of skeletal development can be of unknown aetiology , or attributed to genetic abnormality due to structural changes in the chromosomes . The basic genetic principles are important to understand and apply clinically. These are the guide lines for these complex clinical conditions. </li></ul>
  5. 5. Basic genetic principles : <ul><li>Chromosomes aggregate to form nucleus. </li></ul><ul><li>Chromosomes can be seen individually during cell division by a special staining . </li></ul><ul><li>Normal no. of chromosomes is 46 (Diploid no.) including sex chromosomes (X & Y). </li></ul><ul><li>No. of chromosomes at cell division is 23 (Haploid no.) and form gametes, 22 pairs are autosomes & 1 pair is sex type. </li></ul>
  6. 6. <ul><li>Each chromosome consists of DNA molecules embedded in protein matrix. </li></ul><ul><li>Each DNA molecule consists of groups of polypeptide chains of a double helix . </li></ul><ul><li>Each group of polypeptide chains form a gene . The corresponding gene at the opposite locus of the paired chromosome is known as an allele . </li></ul>
  7. 7. <ul><li>If the members of a pair of alleles are identical , the person is known as Homozygous , and if different then he is Heterozygous. </li></ul><ul><li>Chromosomal abnormalities can be numerical and structural. </li></ul><ul><li>Numerical abnormalities occur due to changes in no. of chromosomes due to failure of paired chromosomes to separate at the anaphase of cell division. </li></ul>
  8. 8. <ul><li>Numerical abnormalities of multiples of haploid no. of gametes produce polypoid cells , e.g. trisomy ( of 21 in Down’s syndrome) . </li></ul>
  9. 9. <ul><li>Structural Abnormalities occur during disjunction and recombination due to breakage or deletion of part of a chromosome or translocation. </li></ul><ul><li>( Translocation arise when the position of a portion of a chromosome becomes changed & doesn't recombine opposite it’s homologue,e.g. Cri du chat syndrome ) . </li></ul>
  10. 10. Structural changes are caused by : <ul><li>Normal event . </li></ul><ul><li>Irradiation . </li></ul><ul><li>Virus infection . </li></ul><ul><li>Late maternal age . </li></ul><ul><li>Other agents . </li></ul>
  11. 11. <ul><li>In the genetic aspects of orthopaedics , the pattern of inheritance is clinically recognizable as an expression of the phenotype and known as penetrance . </li></ul><ul><li>The degree of phenotypic presentation is called expression of the gene . </li></ul>
  12. 12. Genetic Aspects <ul><li>A. A single gene disorder . </li></ul><ul><li>B. A multi-factorial disorder . </li></ul>
  13. 13. A. Single Gene Disorders <ul><li>Due to a single abnormal gene . </li></ul><ul><li>This is the largest group of orthopaedic anomalies with a known genetic basis. </li></ul><ul><li>Classification : can be Dominant or Recessive according to the pattern of inheritance . </li></ul>
  14. 14. Classification of single gene disorders <ul><li>Dominant : the abnormal single gene is expressed whether it is homozygous or heterozygous. This can be either Autosomal or X – linked . </li></ul><ul><li>Recessive : the abnormal single gene is expressed only when homozygous. This can be either Autosomal or X-linked. </li></ul>
  15. 15. Autosomal Dominant Inheritance <ul><li>Male & Female are equally affected. </li></ul><ul><li>The chance of producing affected progeny is 50% in a mating between an affected and non-affected person . </li></ul><ul><li>Unaffected offspring will not inherit the abnormal gene . </li></ul>
  16. 16. Autosomal Recessive Inheritance <ul><li>The abnormal gene comes from both parents , although they are clinically normal . The carrier is in a state of heterozygous. </li></ul><ul><li>The chance of 2 parents being heterozygous for such abnormal gene is greater if they have a common ancestry such as consanguineous marriages . Their offspring will be ; ¼ diseased ( homozygous ) , 2/4 carrier ( heterozygous ) & ¼ normal . </li></ul>
  17. 17. X-linked Dominant Inheritance <ul><li>Very rare . </li></ul><ul><li>The affected father transmits the disease to all his daughters & none to his sons . </li></ul><ul><li>The affected mother pass trait to ½ of her daughters & ½ of her sons . </li></ul><ul><li>Example : Vit.D Resistant Rickets . </li></ul>
  18. 18. X-linked Recessive Inheritance <ul><li>The abnormal recessive gene is carried on X chromosome & will be expressed in the presence of a Y chromosome (Hemizygous ) . Hence male is diseased & female is a carrier . </li></ul>
  19. 19. <ul><li>An affected male will transmit a Y chromosome to his sons & therefore will not be affected and X chromosome to his daughters & therefore will be carriers. </li></ul><ul><li>If affected male marry a carrier female then ½ of their daughters will be affected (Hemizygous) & ½ of daughters will be carriers . </li></ul>
  20. 20. Genetic Aspects <ul><li>A. A single gene disorder . </li></ul><ul><li>B. A multi-factorial disorder . </li></ul>
  21. 21. B. Multi-factorial Inheritance <ul><li>Some orthopaedic conditions have a familial predisposition BUT no clear inheritance . </li></ul><ul><li>Hence , both genetic & environmental factors combine to present those anomalies . </li></ul><ul><li>Examples : Spina Bifida & anencephaly , C.T.E.V. , Perthes’ Disease and A.I.S. </li></ul>
  22. 22. Spina Bifida & Anencephaly <ul><li>The risk of recurrence after the 1 st affected child is ; </li></ul><ul><li>3 - 6 % </li></ul><ul><li>The risk of recurrence after the 2 nd affected child is ; </li></ul><ul><li>10 % </li></ul>
  23. 23. Congenital Talipes Equino-Varus deformity (C.T.E.V.) <ul><li>The risk of recurrence after the 1 st affected child is ; </li></ul><ul><li>< 5 % </li></ul><ul><li>The risk of recurrence after the 2 nd affected child or one parent affected is; </li></ul><ul><li>20 % </li></ul>
  24. 24. Legg-Calve-Perthes’ Disease <ul><li>The risk factors are : </li></ul><ul><li>Low socio-economical class . </li></ul><ul><li>Children born 3d or later . </li></ul><ul><li>Elder parents . </li></ul><ul><li>Fetal mal-position . </li></ul>
  25. 25. Adolescent Idiopathic Scoliosis (A.I.S. ) <ul><li>This type of spinal abnormality occurs in the coronal plane of the spine . </li></ul><ul><li>It appears in the adolescent phase and more commoner in female . </li></ul><ul><li>No identifiable cause , but it shows a strong familial tendency . </li></ul>
  26. 26. Introduction <ul><li>1. Genetic aspects of orthopaedics . </li></ul><ul><li>2. Bone Dysplasias . </li></ul><ul><li>3. Neuromuscular Diseases. </li></ul><ul><li>4. The Spine. </li></ul><ul><li>5. The Hip. </li></ul><ul><li>6. The Knee. </li></ul><ul><li>7. The Foot. </li></ul>
  27. 27. 2. Bone Dysplasias <ul><li>Uncommon . </li></ul><ul><li>2 types : Generalized ( Dysplasias ) & Localized ( Dysostosis ) . </li></ul><ul><li>Growth disturbance can be in the Epiphysis , Metaphysis or Vertebrae . </li></ul><ul><li>Dwarfism is a pathological diminution of height below the normal range of population . </li></ul>
  28. 28. Investigations & Diagnosis of Bone Dysplasias <ul><li>Clinical Examination for deformity , disproportion , height , span , eye & ear exam , I.Q. </li></ul><ul><li>Radiological Examination of skull (always) & skeletal survey . </li></ul><ul><li>Biochemical investigations such as urinalysis as in Mucopolysaccharidoses . </li></ul>
  29. 29. <ul><li>Family study of pedigree & pattern of inheritance . </li></ul><ul><li>Other investigations such as histology , histochemical study , amniocentesis at 16/52 weeks , foetoscopy , endoscopy , level of alpha-fetoprotein and ultrasound . </li></ul>
  30. 30. Classification of Bone Dysplasias <ul><li>Authors who contributed in classification of bone Dysplasias : </li></ul><ul><li>Sir Thomas Fairbank “ An Atlas of General Affections of the Skeleton” </li></ul><ul><li>Weiderman & Langer .. Germany </li></ul><ul><li>Lammy & Maroteaux .. France </li></ul><ul><li>McKusick .. USA </li></ul><ul><li>Waynne – Davies .. UK </li></ul>
  31. 31. <ul><li>Rubin 1964 , wrote “ Dynamic Classification of Bone Dysplasias ” based on the anatomical site of the abnormality: epiphysis , growth plate , metaphysis , or diaphysis . </li></ul><ul><li>European Society of Paediatric Radiology </li></ul><ul><li>in Paris ,1969,publishing “ International Nomenclature of Constitutional Disorders of Bone “ 1970 . </li></ul>
  32. 32. <ul><li>F.T.Horan wrote , a simple classification in the Postgraduate Textbook of Clinical Orthopaedics . </li></ul><ul><li>This classification was simplified for the sake of description and understanding , but the subject is so complex that needs continuous updating and revision . </li></ul>
  33. 33. A simple Classification of Bone Dysplasias <ul><li>1. Dwarfism . </li></ul><ul><li>2. Disorders around growth plate ; </li></ul><ul><li>a. Predominantly epiphyseal </li></ul><ul><li>b. Predominantly metaphysial </li></ul><ul><li>c. Predominantly vertebrae </li></ul>
  34. 34. Continue…Classification of Bone Dysplasia <ul><li>3. Changes in bone density ; </li></ul><ul><li>increased vs. decreased </li></ul><ul><li>4. Craniotubular disorders . </li></ul><ul><li>5. Craniofacial abnormalities . </li></ul><ul><li>6. Vertebral anomalies . </li></ul><ul><li>7. Lysosomal storage disorders . </li></ul><ul><li>8. Abnormalities of cartilage & fibrous tissues . </li></ul><ul><li>9. Miscellaneous disorders . </li></ul>
  35. 35. A simple Classification of Bone Dysplasias <ul><li>1. Dwarfism . </li></ul><ul><li>2. Disorders around growth plate ; </li></ul><ul><li>a. Predominantly epiphyseal </li></ul><ul><li>b. Predominantly metaphysial </li></ul><ul><li>c. Predominantly vertebrae </li></ul>
  36. 36. 1. Dwarfism : 2 types <ul><li>Proportionate : </li></ul><ul><li>There is equal involvement of all bony segments . The patient presents with a short stature in a miniature scale as seen in the circus . </li></ul><ul><li>Disproportionate : </li></ul><ul><li>This is of 2 types ; </li></ul><ul><li>1. Short limb Dwarf </li></ul><ul><li>2. Short trunk Dwarf </li></ul><ul><li>Both types show atypical phenotypes and clinically obvious as atypical dwarf . </li></ul>
  37. 37. A simple Classification of Bone Dysplasias <ul><li>1. Dwarfism . </li></ul><ul><li>2. Disorders around growth plate ; </li></ul><ul><li>a. Predominantly epiphyseal </li></ul><ul><li>b. Predominantly metaphysial </li></ul><ul><li>c. Predominantly vertebrae </li></ul>
  38. 38. 2. Disorders around the growth plate : 3 groups <ul><li>A. The epiphyseal side of the growth plate is principally involved leading to failure to produce a normal ossific nucleus . </li></ul><ul><li>B. The metaphysial side of the growth plate is principally involved leading to failure of endochondral bone formation . </li></ul><ul><li>C. The vertebral growth is mainly involved in association with abnormality of epiphysis or metaphysis . </li></ul>
  39. 39. A simple Classification of Bone Dysplasias <ul><li>1. Dwarfism . </li></ul><ul><li>2. Disorders around growth plate ; </li></ul><ul><li>a. Predominantly epiphyseal </li></ul><ul><li>b. Predominantly metaphysial </li></ul><ul><li>c. Predominantly vertebrae </li></ul>
  40. 40. A. Predominantly Epiphyseal Involvement : <ul><li>Multiple Epiphyseal Dysplasia( MED ) : </li></ul><ul><li>Autosomal Dominant . </li></ul><ul><li>Most forms give little problems . </li></ul><ul><li>Symptoms arise from premature degenerative changes in the weight bearing joints in adults . </li></ul>
  41. 41. <ul><li>2. Chondrodysplasia Punctata ( Stippled Epiphysis ) : </li></ul><ul><li>Autosomal dominant . </li></ul><ul><li>Severe form is autosomal recessive . </li></ul><ul><li>2 main forms ; * a. Majority have flat face , </li></ul><ul><li>depressed nasal bridge , atrophic skin , </li></ul><ul><li>cataracts , joint contractures , scoliosis , </li></ul><ul><li>asymmetrical limb shortening & stippling of </li></ul><ul><li>epiphysis of long bones up to the age of 4 . </li></ul><ul><li>* b. Conradi – Hunnermann . </li></ul><ul><li>The affected infant is stillborn . </li></ul>
  42. 42. <ul><li>NOTE : </li></ul><ul><li>Stippling of epiphysis can occur in ; </li></ul><ul><li>Multiple Epiphyseal Dysplasia . </li></ul><ul><li>Spondylo – Epiphyseal Dysplasia . </li></ul><ul><li>Hypothyroidism . </li></ul><ul><li>Fetal Warfarin Syndrome . </li></ul>
  43. 43. A simple Classification of Bone Dysplasias <ul><li>1. Dwarfism . </li></ul><ul><li>2. Disorders around growth plate : </li></ul><ul><li>a. Predominantly epiphyseal </li></ul><ul><li>b. Predominantly metaphysial </li></ul><ul><li>c. Predominantly vertebrae </li></ul>
  44. 44. B. Predominantly Metaphyseal Involvement : <ul><li>1. Achondroplasia . </li></ul><ul><li>2. Hypochondroplasia . </li></ul><ul><li>3. Metaphyseal Chondroplasia . </li></ul><ul><li>4. Familial Hypophosphataemia </li></ul><ul><li>( Vitamin D – Resistant Rickets ) </li></ul>
  45. 45. 1. A chondroplasia <ul><li>80% result from new mutation . </li></ul><ul><li>Autosomal dominant . </li></ul><ul><li>Commonest form of dwarfism . </li></ul><ul><li>Disproportionate type of dwarfism . Short – limb dwarf & proximal segments are particularly affected . </li></ul><ul><li>Apparent at birth . </li></ul>
  46. 46. <ul><li>Metaphyseal abnormalities predominate . </li></ul><ul><li>Some spinal involvement . </li></ul><ul><li>Forehead prominent . </li></ul><ul><li>Nasal bridge depressed . </li></ul><ul><li>Fingers are short & stubby with a trident appearance . </li></ul><ul><li>Walk late . </li></ul>
  47. 47. <ul><li>Prominent abdomen . </li></ul><ul><li>Hip flexion contracture . </li></ul><ul><li>Genu varus deformity late in childhood . </li></ul><ul><li>Valgus deformity of the ankle joint . </li></ul><ul><li>Lumbar lordosis . </li></ul><ul><li>Mid spinal kyphosis in infancy & disappears after walking . </li></ul>
  48. 48. <ul><li>X –Rays : </li></ul><ul><li>Calvarium is large . </li></ul><ul><li>Base of skull is underdeveloped . </li></ul><ul><li>Limbs are short , wide , irregular metaphyses but epiphyses are normal . </li></ul><ul><li>Pelvis shows squared iliac wings & small greater sciatic notches . </li></ul>
  49. 49. <ul><li>Narrow spinal canal . </li></ul><ul><li>Pedicles are short & inter – pedicular space is reduced . </li></ul><ul><li>Surgery will be required to correct deformities and decompress the spine if symptoms arise . </li></ul><ul><li>Family counseling is needed . </li></ul>
  50. 50. B. Predominantly Metaphyseal Involvement : <ul><li>1. Achondroplasia . </li></ul><ul><li>2. Hypochondroplasia . </li></ul><ul><li>3. Metaphyseal Chondroplasia . </li></ul><ul><li>4. Familial Hypophosphataemia </li></ul><ul><li>( Vitamin D – Resistant Rickets ) </li></ul>
  51. 51. 2. Hypochondroplasia <ul><li>Autosomal dominant . </li></ul><ul><li>Distinct genetically from achondroplasia . </li></ul><ul><li>The cranium,facies & fingers are normal . </li></ul><ul><li>Stature less stunted . </li></ul><ul><li>Spinal changes are less . </li></ul><ul><li>Clinical stigmata are minimal & not easily diagnosed . </li></ul>
  52. 52. <ul><li>X –Rays : </li></ul><ul><li>. Pelvis shows horizontal sacrum & short femoral necks . </li></ul>
  53. 53. B. Predominantly Metaphyseal Involvement : <ul><li>1. Achondroplasia . </li></ul><ul><li>2. Hypochondroplasia . </li></ul><ul><li>3. Metaphyseal Chondroplasia . </li></ul><ul><li>4. Familial Hypophosphataemia </li></ul><ul><li>( Vitamin D – Resistant Rickets ) </li></ul>
  54. 54. 3. Metaphyseal Chondrodysplasia <ul><li>Autosomal dominant . </li></ul><ul><li>Types : Schmid , Jansen & McKusick (Cartilage Hair Hypoplsia) . </li></ul><ul><li>Schmid type ( commonest ) ; </li></ul><ul><li>Short stature . </li></ul><ul><li>Bow legs . </li></ul><ul><li>Bilateral Coxa Vara . </li></ul><ul><li>Lordotic lumbar spine . </li></ul>
  55. 55. B. Predominantly Metaphyseal Involvement : <ul><li>1. Achondroplasia . </li></ul><ul><li>2. Hypochondroplasia . </li></ul><ul><li>3. Metaphyseal Chondroplasia . </li></ul><ul><li>4. Familial Hypophosphataemia </li></ul><ul><li>( Vitamin D – Resistant Rickets ) </li></ul>
  56. 56. 4. Familial Hypophosphataemia ( Vitamin-D Resistant Rickets ) <ul><li>X-linked dominant trait . </li></ul><ul><li>Metabolic disease . </li></ul><ul><li>Deformity of lower limbs ; </li></ul><ul><li>Bow legs . </li></ul><ul><li>Knock knees . </li></ul><ul><li>Windswept deformity . </li></ul><ul><li>Skeletal deformities are progressive . </li></ul>
  57. 57. <ul><li>X – Rays : </li></ul><ul><li>. Wide irregular metaphysis . </li></ul><ul><li>. Normal epiphysis . </li></ul><ul><li>. Osteoporosis . </li></ul><ul><li>. Pseudo -fractures . </li></ul>
  58. 58. A simple Classification of Bone Dysplasias <ul><li>1. Dwarfism . </li></ul><ul><li>2. Disorders around growth plate : </li></ul><ul><li>A. Predominantly epiphyseal </li></ul><ul><li>B. Predominantly metaphysial </li></ul><ul><li>C. Predominantly vertebrae </li></ul>
  59. 59. C. Predominantly Vertebrae <ul><li>1. Spondylo – Epiphyseal Dysplasia . </li></ul><ul><li>2. Pseudo – Achondroplasia . </li></ul><ul><li>3. Diastrophic Dysplasia . </li></ul><ul><li>4. Rare Syndromes . </li></ul>
  60. 60. 1. Spondylo – Epiphyseal Dysplsia.. 2 forms : <ul><li>Congenita ; </li></ul><ul><li>Autosomal dominant </li></ul><ul><li>At birth </li></ul><ul><li>Short-trunk dwarf </li></ul><ul><li>Barrel chest </li></ul><ul><li>G.valgus&varus def. </li></ul><ul><li>Club foot </li></ul><ul><li>Cleft palate </li></ul><ul><li>Tarda ; </li></ul><ul><li>X-linked recessive </li></ul><ul><li>Less severe ,variable </li></ul><ul><li>Apparent later </li></ul><ul><li>Relative short trunk </li></ul><ul><li>Early O.A. of joints </li></ul><ul><li>Mild club foot </li></ul><ul><li>No cleft palate </li></ul>
  61. 61. <ul><li>X – Rays : </li></ul><ul><li>Epiphyses late </li></ul><ul><li>Vertebral bodies flat (platyspondyly) </li></ul><ul><li>Odontoid process hypoplastic leading to atlanto-axial instability </li></ul><ul><li>X –Rays : </li></ul><ul><li>Mild dysplastic changes in the joints </li></ul><ul><li>Platyspondyly with a hump in posterior / superior portion of vertebral body </li></ul>
  62. 62. C. Predominantly Vertebrae <ul><li>1. Spondylo – Epiphyseal Dysplasia . </li></ul><ul><li>2. Pseudo – Achondroplasia . </li></ul><ul><li>3. Diastrophic Dysplasia . </li></ul><ul><li>4. Rare Syndromes . </li></ul>
  63. 63. 2. Pseudo-Achondroplsia <ul><li>Heterogeneous of dominant & recessive . </li></ul><ul><li>Short – limb dwarfism . </li></ul><ul><li>Normal craniofacial appearance when compared with achondroplasia . </li></ul><ul><li>Some spinal deformity . </li></ul><ul><li>Genu varus & valgus deformity . </li></ul>
  64. 64. <ul><li>X-rays : </li></ul><ul><li>Vertebral bodies are flat , biconvex & have irregular end plates . Become normal towards puberty . </li></ul><ul><li>Pelvis .. Hypo-plastic & flattened acetabulae . </li></ul><ul><li>Epiphysis & metaphysis of long bones are abnormal . </li></ul><ul><li>Tubular bones are short & broad . </li></ul>
  65. 65. C. Predominantly Vertebrae <ul><li>1. Spondylo – Epiphyseal Dysplasia . </li></ul><ul><li>2. Pseudo – Achondroplasia . </li></ul><ul><li>3. Diastrophic Dysplasia . </li></ul><ul><li>4. Rare Syndromes . </li></ul>
  66. 66. 3. Diastrophic Dysplasia <ul><li>Autosomal recessive . </li></ul><ul><li>Appears at birth . </li></ul><ul><li>Short limb dwarf . </li></ul><ul><li>Joint contructures & stiff equinus deformity . </li></ul><ul><li>Proximally set limbs ”hitchhiker”. </li></ul><ul><li>Cystic swelling of pinnae . </li></ul>
  67. 67. <ul><li>Scoliosis is severe . </li></ul><ul><li>Mentally normal . </li></ul><ul><li>X-Rays : Kypho-scoliosis . </li></ul><ul><li>Epiphysis of long bones are flat . </li></ul><ul><li>Metaphysis are flared . </li></ul><ul><li>Phalanges , MC , MT are wide & short . </li></ul><ul><li>Acetabulae wide & femoral heads flat & irregular with varus neck . </li></ul>
  68. 68. C. Predominantly Vertebrae <ul><li>1. Spondylo – Epiphyseal Dysplasia . </li></ul><ul><li>2. Pseudo – Achondroplasia . </li></ul><ul><li>3. Diastrophic Dysplasia . </li></ul><ul><li>4. Rare Syndromes . </li></ul>
  69. 69. 4. Rare Syndromes <ul><li>A. Metatropic Dysplasia.. Short limb dwarf at birth and late in infancy short trunk dwarf due to rapidly progressive kyphoscoliosis . </li></ul><ul><li>B. Spondylometaphyseal Dysplasia.. Common, heterogeneous , disproportionate short stature & x-rays of platyspondyly and metaphyseal irregularity . </li></ul><ul><li>Kniest Dysplasia.. Rare & resembles metatropic dysplasia . </li></ul>
  70. 70. Continue…Classification of Bone Dysplasia <ul><li>3. Changes in bone density ; </li></ul><ul><li>increased vs. decreased </li></ul><ul><li>4. Craniotubular disorders . </li></ul><ul><li>5. Craniofacial abnormalities . </li></ul><ul><li>6. Vertebral anomalies . </li></ul><ul><li>7. Lysosomal storage disorders . </li></ul><ul><li>8. Abnormalities of cartilage & fibrous tissues . </li></ul><ul><li>9. Miscellaneous disorders . </li></ul>
  71. 71. 3. Changes in the Bone Density <ul><li>Increased : </li></ul><ul><li>A. Osteopetrosis … </li></ul><ul><li>Infantile . </li></ul><ul><li>Intermediate . </li></ul><ul><li>Tarda ( Adult ) . </li></ul><ul><li>B. Pycnodysostosis . </li></ul><ul><li>Decreased : </li></ul><ul><li>Osteogenesis Imperfecta . </li></ul>
  72. 72. Increased bone density… A.Osteopetrosis : <ul><li>Heterogeneous . </li></ul><ul><li>3 forms : </li></ul><ul><li>Infantile … rare , stillbirth is common & surviving infants show anaemia , hepatosplenomegaly , cranial nerves palsy and delayed dentition . </li></ul><ul><li>Intermediate … occurs sometimes . </li></ul><ul><li>Tarda … adult form , autosomal dominant . </li></ul>
  73. 73. Continue .. Osteopetrosis, tarda form <ul><li>Cranial nerves compression causing facial palsy & deafness . </li></ul><ul><li>Pathological fractures . </li></ul><ul><li>Xrays : Thick calvarium with basal sclerosis , vertebral end-plate sclerosis causing a banded appearance “ the rugger-jersey ” spine , cortices of long bones are widened & dense giving rise to an “ endbone ” or “ bone within bone ” appearance. </li></ul>
  74. 74. 3. Changes in the Bone Density <ul><li>Increased : </li></ul><ul><li>A. Osteopetrosis … </li></ul><ul><li>Infantile . </li></ul><ul><li>Intermediate . </li></ul><ul><li>Tarda ( Adult ) . </li></ul><ul><li>B. Pycnodysostosis . </li></ul><ul><li>Decreased : </li></ul><ul><li>Osteogenesis Imperfecta . </li></ul>
  75. 75. Increased bone density… B.Pycnodysostosis <ul><li>Rare . </li></ul><ul><li>Short stature . </li></ul><ul><li>Generalized increase in bone density . </li></ul><ul><li>Face is small & triangular . </li></ul><ul><li>Mandible is under-developed with obtuse angle </li></ul><ul><li>Hands are short & square with stubby fingers . </li></ul><ul><li>Dentition is abnormal . </li></ul><ul><li>Pathological fractures . </li></ul>
  76. 76. <ul><li>Xrays : </li></ul><ul><li>Generalized sclerosis . </li></ul><ul><li>Little abnormality of modelling . </li></ul><ul><li>Skull..large calvarium , wide suture lines,persistant fontanelles , wormian bones , hypoplastic facial skeleton . </li></ul><ul><li>Terminal phalanges are short & irregular . </li></ul><ul><li>Madelung’s deformity . </li></ul>
  77. 77. 3. Changes in the Bone Density <ul><li>Increased : </li></ul><ul><li>A. Osteopetrosis … </li></ul><ul><li>Infantile . </li></ul><ul><li>Intermediate . </li></ul><ul><li>Tarda ( Adult ) . </li></ul><ul><li>B. Pycnodysostosis . </li></ul><ul><li>Decreased : </li></ul><ul><li>Osteogenesis Imperfecta . </li></ul>
  78. 78. Decreased bone density… Osteogenesis Imperfecta <ul><li>Bone fragility . </li></ul><ul><li>Common bone dysplasia . </li></ul><ul><li>Heterogeneous . </li></ul><ul><li>2 forms : </li></ul><ul><li>Congenita . </li></ul><ul><li>Tarda . </li></ul>
  79. 79. Osteogenesis Imperfecta… 2 forms.. <ul><li>Congenita : </li></ul><ul><li>Severe , stillbirth , or early death. </li></ul><ul><li>Genetics uncertain , but some are autosomal recessive & some are new mutations . </li></ul><ul><li>Head large , soft calvarium & wide fontanelles . </li></ul><ul><li>Tarda : </li></ul><ul><li>Less severer . Can continue to adult life. </li></ul><ul><li>Majority autosomal dominant but some are heterogeneous & genetics are obscure and can be difficult . </li></ul><ul><li>Multiple fractures which heal rapidly & bruising tendency . </li></ul>
  80. 80. Osteogenesis Imperfecta..continue <ul><li>Congenita…. </li></ul><ul><li>Disproportionate shortening of limbs . </li></ul><ul><li>Xrays : skull has poor ossification , wide sutures & many wormian bones . Multiple fractures , spinal deformity with biconcave or flattened vertebrae . Limbs are short & wide or slender & narrow . </li></ul><ul><li>Tarda ... </li></ul><ul><li>Sclerae blue , poor dentition & laxity of ligaments . </li></ul><ul><li>Xrays : skull , multiple fractures , spinal deformity and abnormal limbs are the same as in the congenita . </li></ul>
  81. 81. 4.Cranio-tubular Disorders

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