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Approach to Dysmorphic Infant or Child

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Undergraduates of Medicine and Pediatrics
Basics for thinking of Dysmorphology

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Approach to Dysmorphic Infant or Child

  1. 1. Approach to diagnosis of Malformed Infant & Child Mohammad Al-Haggar, MD. Professor of Genetics
  2. 2. Dysmorphology vs. IEM. • Abnormal structure ± abnormal function  minor vs. major dysmorphism • Normal structure but with abnormal function  IEMs (enzymopathy). Structure vs. Function M. Al-Haggar, MD.
  3. 3. History • Pedigree  inheritance, RR. • Parental age  maternal, paternal • Consanguinity. • Abortion and still birth. • Age of presentation and course. M. Al-Haggar, MD.
  4. 4. Nomenclature • Congenital vs Developmental / Genetic. • Single vs multiple  Major vs minor. • Sequence vs Syndrome. • Deformity. • Malformation. • Disruption. • Dysplasia. M. Al-Haggar, MD.
  5. 5. DeformationDysplasia PACKAGINGPRODUCTION Disruption Malformation Extrinsic ?
  6. 6. Diagramatic Sketch • Malformation  Production intrinsic defect  failure of embryonic proliferation and/or differentiation  Abnormal structure. • Disruptions  Production extrinsic (disruptive) agents  interferes with embryonic development of a structure  destruction or removal of structure. • Dysplasias  Production intrinsic defect  abnormal cellular organization  abnormal model of structure. • Deformation  Packaging extrinsic defect  normally formed structure pushed out by mechanical forces. Production,Intrinsic EXtrinsic
  7. 7. Flow Chart • Number of malformation. • Number of involved tissue. • Presence of tissue damage. • Presence of Joint and bone Involvement. M. Al-Haggar, MD.
  8. 8. Algorithm for Malformed Infant 1. Number of Malformations1. Number of Malformations 2. No. of Involved tissues2. No. of Involved tissues 3. Primary Tissue Destruction3. Primary Tissue Destruction May be minor or major Single / IsolatedSingle / Isolated MultipleMultiple OneOne ≥ Two≥ Two YesYes NoNo 4. Primary Joint, Bone Involvement4. Primary Joint, Bone Involvement YesYes NoNo
  9. 9. Dysplasia M. Al-Haggar, MD.
  10. 10. Algorithm for Malformed Infant 1. Number of Malformations1. Number of Malformations 2. No. of Involved tissues2. No. of Involved tissues 3. Primary Tissue Destruction3. Primary Tissue Destruction May be minor or major Single / IsolatedSingle / Isolated MultipleMultiple OneOne Dysplasia ≥ Two≥ Two YesYes NoNo 4. Primary Joint, Bone Involvement4. Primary Joint, Bone Involvement YesYes NoNo
  11. 11. • Malformations  major, multiple. M. Al-Haggar, MD.
  12. 12. • Malformations  major, multiple. •Tissues involved  One (bone). M. Al-Haggar, MD.
  13. 13. • Malformations  major, multiple. •Tissues involved  One (bone). •Tissue damage  Absent. M. Al-Haggar, MD.
  14. 14. • Malformations  major, multiple. •Tissues involved  One (bone). •Tissue damage  Absent. •Joints involvement  No. Dysmorphic Short Infant with Intact Bones & Joints Skeletal Dysplasia (Achondroplasia) M. Al-Haggar, MD.
  15. 15. Disruption M. Al-Haggar, MD.
  16. 16. Algorithm for Malformed Infant 1. Number of Malformations1. Number of Malformations 2. No. of Involved tissues2. No. of Involved tissues 3. Primary Tissue Destruction3. Primary Tissue Destruction May be minor or major Single / IsolatedSingle / Isolated MultipleMultiple OneOne ≥ Two≥ Two YesYes Disruption Sequence NoNo 4. Primary Joint, Bone Involvement4. Primary Joint, Bone Involvement YesYes NoNo M. Al-Haggar, MD.
  17. 17. M. Al-Haggar, MD.
  18. 18. • Malformations  major, multiple. M. Al-Haggar, MD.
  19. 19. • Malformations  major, multiple. •Tissues involved  ≥ 2 (bones, Skin, genitalia). M. Al-Haggar, MD.
  20. 20. • Malformations  major, multiple. •Tissues involved  ≥ 2 (bones, Skin, genitalia). •Tissue damage  Yes (absent 1 LL = fused LLs). M. Al-Haggar, MD.
  21. 21. • Malformations  major, multiple. •Tissues involved  ≥ 2 (bones, Skin, genitalia). •Tissue damage  Yes (absent 1 LL = fused LLs). •Joints involvement  Absent (? Secondary). Disruption (Vascular steal) with 2ry Deformation (AMC) Sirenomelia M. Al-Haggar, MD.
  22. 22. Deformation M. Al-Haggar, MD.
  23. 23. Algorithm for Malformed Infant 1. Number of Malformations1. Number of Malformations 2. No. of Involved tissues2. No. of Involved tissues 3. Primary Tissue Destruction3. Primary Tissue Destruction May be minor or major Single / IsolatedSingle / Isolated MultipleMultiple OneOne ≥ Two≥ Two YesYes Deformation Sequence NoNo 4. Primary Joint, Bone Involvement4. Primary Joint, Bone Involvement YesYes NoNo M. Al-Haggar, MD.
  24. 24. M. Al-Haggar, MD.
  25. 25. • Malformations  Multiple Contractures of hands, feet, face M. Al-Haggar, MD.
  26. 26. • Malformations  Multiple Contractures of hands, feet, face •Tissue involved  many. M. Al-Haggar, MD.
  27. 27. • Malformations  Multiple Contractures of hands, feet, face •Tissue involved  many. •Tissue damage  Absent. M. Al-Haggar, MD.
  28. 28. • Malformations  Multiple Contractures of hands, feet, face •Tissue involved  many. •Tissue damage  Absent. •Joints  Yes (Contractures). Multiple 1ry Deformations  Generalized Contractures (DA.) Arthrogryposis Multiplex Congenita (AMC) Freeman Sheldon Syndrome (FSS)
  29. 29. Secondary Deformations Restricted Fetal Movement Potter’s Face Renal Agenesis Oligohydramnios M. Al-Haggar, MD.
  30. 30. Malformation Syndrome M. Al-Haggar, MD.
  31. 31. Algorithm for Malformed Infant 1. Number of Malformations1. Number of Malformations 2. No. of Involved tissues2. No. of Involved tissues 3. Primary Tissue Destruction3. Primary Tissue Destruction May be minor or major Single / IsolatedSingle / Isolated MultipleMultiple OneOne ≥ Two≥ Two YesYes NoNo 4. Primary Joint, Bone Involvement4. Primary Joint, Bone Involvement YesYes Malformation or MMS NoNo M. Al-Haggar, MD.
  32. 32. • Malformations  major, multiple. M. Al-Haggar, MD.
  33. 33. • Malformations  major, multiple. •Tissues involved  ≥ 2 (bones, Sclera, Ear). M. Al-Haggar, MD.
  34. 34. • Malformations  major, multiple. •Tissues involved  ≥ 2 (bones, Sclera, Ear). •Tissue damage  Absent. M. Al-Haggar, MD.
  35. 35. • Malformations  major, multiple. •Tissues involved  ≥ 2 (bones, Sclera, Ear). •Tissue damage  Absent. •Joints involvement  No. Multiple Malformation Syndrome  Bone fractures Osteogenesis Imperfecta M. Al-Haggar, MD.
  36. 36. Algorithm for Malformed Infant 1. Number of Malformations1. Number of Malformations 2. No. of Involved tissues2. No. of Involved tissues 3. Primary Tissue Destruction3. Primary Tissue Destruction May be minor or major Single / IsolatedSingle / Isolated MultipleMultiple OneOne Dysplasia ≥ Two≥ Two YesYes Disruption Sequence Deformation Sequence  Fetal Akinesia Syndrome:- 1.Oligohydraminos  Renal Agenesis (Potter). 2.Myopathic / Neuropathic Athrogryposis (AMC). NoNo 4. Primary Joint, Bone Involvement4. Primary Joint, Bone Involvement YesYes Malformation or MMS NoNo
  37. 37. Exercise M. Al-Haggar, MD.
  38. 38. • Malformations  Multiple major. M. Al-Haggar, MD.
  39. 39. • Malformations  Multiple major. •Tissue involved  many. M. Al-Haggar, MD.
  40. 40. • Malformations  Multiple major. •Tissue involved  many. •Tissue damage  Yes. M. Al-Haggar, MD.
  41. 41. • Malformations  Multiple major •Tissue involved  many. •Tissue damage  Yes. •Joints  2ry Contractures. Disruption Sequence  2ry deformation = Neuropathic AMC M. Al-Haggar, MD.
  42. 42. Multiple Malformation Syndrome • Diagnostic dilemma…. 1.Define. 2.Investigate. 3.Analyze. 4.Grub  scientific web. 5.Enquire  Consult. 6.Search  Publication, Citation. M. Al-Haggar, MD.
  43. 43. Diagnosis • Investigations  relevant. • Differential diagnosis. • Search engines. • No place for bedside diagnosis. M. Al-Haggar, MD.
  44. 44. Examination • Systematic. • Symmetry in bilateral organs  Goldenhar, Silver Russel. • Genitalia  Turner, Optiz. • Psychomotor retardation  DS, FXS. • Ear, Eye, Hands. M. Al-Haggar, MD.
  45. 45. Dysmorphology Pearls • Pursed up lips. • Heterochromia iridis. • Eversion of lateral third of lower eyelid. • Webbing of the neck. • Absent clavicles. • Inverted nipples. • Broad thumbs / great toes. • Radial ray defects. • Thrombocytopenia absent radius syndrome. • Mitten hands. • Hyper extensibility of skin and joints. M. Al-Haggar, MD.
  46. 46. Dysmorphology Seckel dwarfism (AR.)  bird headed face with prominent nose
  47. 47. Carbamazepine Teratogenesis  flat nose, long philtrum, abnormal ears and microcephaly 1 2 3 M. Al-Haggar, MD.
  48. 48. Major malformation  NTD; meningomyelocele, and occipital encephalocele Minor malformation (Polydactyly) Postaxial  Common, isolated malformation or part of a syndrome. Preaxial  rare, usually syndromic. M. Al-Haggar, MD.
  49. 49. CDG  Inverted nipples, Abnormal fat distribution, FTT, severe developmental delay. M. Al-Haggar, MD.
  50. 50. Ehlers Danlos (AD.)  Skin hyper-extensibility. M. Al-Haggar, MD.
  51. 51. William syndrome  Peri-orbital edema, bilateral epicanthic folds and thick everted lower lip, Echo  AS. M. Al-Haggar, MD.
  52. 52. M. Al-Haggar, MD.
  53. 53. Blue are affecteds M. Al-Haggar, MD.
  54. 54. Age of onset of blue affecteds in successive generation). M. Al-Haggar, MD.
  55. 55. Blue are carriers, red are affecteds M. Al-Haggar, MD.
  56. 56. M. Al-Haggar, MD.
  57. 57. Lethal in males (incontinentia pigmenti) M. Al-Haggar, MD.
  58. 58. Blue are affecteds M. Al-Haggar, MD.
  59. 59. Blue are affecteds. M. Al-Haggar, MD.
  60. 60. M. Al-Haggar, MD.

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