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  • 1. Congenital Defects
  • 2. Volume 20 Congenital Defects (Part 1) Dysplasias classification Epiphyseal defects Stippled epiphyses Multiple epiphyseal dysplasia MED tarda Spondyloepiphyseal dysplasia SED tarda Metatrophic dwarfism
  • 3. ClassificationLittle People of America
  • 4. Classification Types The older clinical , historical classification frequently named after the first person to record the syndrome in the literature. (Morquio’s) Our present day morphologic classification based mainly on the dominent radiologic abnormality (Spondyloepiphyseal dysplasia) Future classification based on knowledge as to the biochemical molecular defect or the actual molecular genetic defect. (Mucopolysaccharidosis IV)
  • 5. Morphologic Classification
  • 6. Morphologic Classification
  • 7. ClassificationTarsal epiphyseal aclasia
  • 8. Classification
  • 9. Classification
  • 10. Epiphyseal Defects
  • 11. Stippled Epiphyses Stippled epiphyses is a very severe or congenita form of multipleepiphyseal dysplasia (MED) which has many diagnostic synonymsincluding dysplasia epiphysealis punctada, chondrodysptrophy,calcinosis universalis , and Conradi’s syndrome. It is the onlyepiphyseal dysplasia with severe limb shortening at birth thatmight suggest the diagnosis of achondroplasia except for thenormal appearance of the face and skull which might invite theterm pseudoachondroplastic MED. However, the heavy dystrophiccalcification noted a in the epiphyseal cartilage in the dwarftedextremities is the diagnositic feature that clearly separates stippledepiphyses from achondroplasia that has normal epiphyses at birth.It has been suggested that the etiology of this dysplasia is second toa deficiency of normal vascular ingrowth of the epiphysealcartilage that may then cause cartilage eschemia that then results inthe formation of dystrophic calcification and a delay in the appear-
  • 12. ance of a none fragmented epiphyseal ossification center.As time goes by if the child survives, the short limbs catch upwith growth, the stippled calcification in the epiphysesdisappears and by maturity the limb lengths may be quietnormal. these children have a major problem at birth because of theirlong but frail ribs similar to infants with osteogenesis imperfectathat results in an early respiratory death in half the childrenduring the first year of life. Because of an underlying collagendeficiency they also appear as a floppy child second toligamentous laxity and hypotonic musculature.
  • 13. Case #1 Stippled EpiphysesNew born child with severe dwarfism but normal head and face
  • 14. Case #1 At birth 7 mos 7 mos 7 mos
  • 15. Case #2Stippled EpiphysesNew born infant withsevere dwarfism butnormal appearing skulland face along withextensive calcific stipplingof the epiphyses
  • 16. Case #3 Still born Stippled Epiphyses Whole body radiograph of a stillborn with stippled epiphysesand autopsy specimen of patella showing dystrophic calcification
  • 17. Case #4 Stippled EpiphysesFloppy appearing childsecond to ligamentouslaxity and muscle hypotoniaand deformed ear pinna
  • 18. Case #5 Stippled EpiphysesCongenital cataracts seen in 30% of cases Atrophic skin aroundhair follicles and patchy alopecia
  • 19. Case #6 Stippled epiphysesDwarfted childwith normal facebut kyphotic LDspine similar toMorquio’s
  • 20. Case #7 Stippled Epiphyses In a 2 yr old the limbs are restoring good length
  • 21. Case #8 Stippled Epiphyses 2 yr old child with asymmetric dystrophic calcification in both carpal areas
  • 22. Case #9 1 yr Stippled EpiphysesRapid loss of dystrophiccalcification in carpaland tarsal areas with3 yrs of normal growth 4 yr
  • 23. Multiple Epiphyseal Dysplasia tarda (Fairbank’s disease) The tarda or mild form of MED congenita (stippled epiphyses)is entirely different clinically in that the child is normal appearingat birth and then shows signs of growth retardation during thefirst growth spurt of life. They do not show evidence of calcificstippling in the eipiphyseal cartilage but instead we see retardedmaturation and deformity of the epiphyseal ossification centerswhich appear fragmented on radiographic examination but infact represents multiple centers forming in a cluster whicheventually unite at maturation. The major defects are seen in theweight baring joints and may develop osteochondritic defectsthat result in early painful osteoarthritis requiring variousarthroplasty surgical treatments. Increased ligamentous laxitymay result in developmental dislocations. These patients average4 ft. 11 in. in height with most of the shortening seen in the
  • 24. lower extremities. The head and face are normal appearingcompared to the abnormalities seen in the achondroplasticdwarf.
  • 25. Case #1Multiple Epiphyseal Dysplasia tarda (Fairbank’s disease) 19 yr old 4 ft 11 in male with stiff joints and pain in both hips and knees
  • 26. Fairbank’s Disease
  • 27. Fairbank’s Disease Universal ring apophseal ring defects with slight kyphotic defect at LD juncture Normal skull and face
  • 28. Fairbank’s Disease Photo of hands shows early osteoarthritic stiffness and swelling of the PIP and DIP joints (campnodactyly)X-ray shows the early DOA of fingerjoints with ulnar tilting of distal radius
  • 29. Case #2 Fairbank’s DiseaseThis boy and his sister both haveMED tarda with widened and flatappearing prox femoral epiphysesthat look like Perth’s disease. Slanting distal radii and subluxation of radial heads
  • 30. Case #3 MED Tarda sister of Case #2
  • 31. Normal skullRing apophyseal defects of entire LD spine
  • 32. Upper extremities
  • 33. Case #4 MED Tarda knees 13 yr male with intermittent painful effusions both knees 1 yr
  • 34. Surgical photos at TKA
  • 35. Case #5 Pseudo MED in Cretinism Mentally retarded child with hypothyroid dwarfism
  • 36. Case #6 Pseudo MED tarda in Perthe’s 10 yr old male treated for Perthe’s syndrome for past 3 yrs
  • 37. Spondylepiphyseal Dysplasia SED Tarda SED tarda is morphologically similar to Morquio’s of themucopolysaccharidosis group of SED congenita but differs inthat no mucopolysaccharides are found in the urine of thesepatients and their growth retardation is not noted clinicallyuntil their second growth spurt and is confined mostly to theaxial skeleton. Radiographically one will notice a universalflatening of the LD vertabrae referred to as platyspondylysimilar to that seen in Scheuermann’s disease which is mostlikely a mild form of SED tarda. Along with the defective ringapophyses these patients develop early degenerative discdisease with multiple vertebrae demonstrating Schmorel’s nodesor intravertebral body disc herniations associated with earlysymptoms of LD back pain. The epiphyseal changes in theextremities are very mild compared to MED tarda and is seen
  • 38. mainly in the lower extremities resulting in early adult lifedegenerative osteoarthritis.
  • 39. Case #1 Spondyloepiphyseal Dysplasia Tarda Young adult male with universal platyspondyly LD spine
  • 40. Minor epiphyseal defects in the extremities
  • 41. Case #2 Spondyloepiphyseal Dysplasia TardaYoung adult male with LD platyspondyly and loss of disc height
  • 42. Metatrophic Dysplasia At birth the extremities are short with a normal appearing spine.The term metatrophic means “to change” and is used here becauselater in life the spine becomes shortened with kyphoscoliosis.Minimal changes are seen in the extremity epiphyses as we see inMED with delayed appearance of ossification centers followedlater with deformed and flatened epiphyseal caps. Hypoplasia ofthe odontoid process can result in C1 on 2 instability requiringposterior fusion to avoid cord damage.
  • 43. Case #1 Early Metatrophic Dwarfism Young child born with short limbs and normal spine
  • 44. Case #2 Metatrophic Dwarf 5 yr old female with LD kyphoscoliosis and plataspondyly
  • 45. In the lower extremities we seeretarded epiphyseal ossificationcenters and generalized osteopenia
  • 46. X-rays showing odontoid hypoplasia with C1 on 2 subluxation requiring a posterior fusion seen to your far right