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Approach to a child with dysmorphism

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EVALUATION OF A CHILD WITH DYSMORPHIC FEATURES

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Approach to a child with dysmorphism

  1. 1. Approach to a child with dysmorphism Dr. Syeda Ismat Bukhari
  2. 2. Introduction  The term dysmorphic is derived from the Greek words “dys” (disordered, abnormal, painful) and “morph” (shape, form).  Dysmorphology is a discipline of clinical genetics that studies and attempts to interpret the patterns of human growth and structural defects.
  3. 3. Dysmorphism Vs Syndrome  The child with dysmorphic signs often does not have a major malformation, and he or she may simply have an appearance that is unusual compared with the general population and out of keeping with that of unaffected close relatives.  A syndrome is simply a recognizable pattern of dysmorphic signs that have a common cause.
  4. 4. Understand the difference  Major malformation with medical +/- social implications often require surgical repair  Minor malformation are of cosmetic significance sometimes  Normal variants
  5. 5. Incidence  Major congenital anomalies At birth  2 – 3 % At 5 yrs  4 – 6 %  Minor congenital anomalies At birth  15 %
  6. 6. The importance of recognizing minor anomalies  Minor anomalies are often indicators for relevant major anomalies.
  7. 7. Causes of malformations Cause Percent incidence Genetic Chromosome Single gene 15 – 25 10 – 15 2 – 10 Multifactorial 20 – 25 Environmental Maternal diseases Uterine / Plazental Drug / Chemicals 8 – 12 6 – 8 2 – 3 0.5 – 1 Twinning 0.5 – 1 Unknown 40 – 60
  8. 8. History of intrauterine development
  9. 9. Periods of malformation
  10. 10. Clinical approach
  11. 11. History  Antenatal history  Problems with infertility (medications [clomid]  techniques [IVF - invitro fertilization, PGD - preimplantation genetic diagnosis, ICSI - intracytoplasmic sperm injection])  Fetal Movement (active, decreased)  Exposures (medications, tobacco, alcohol, drugs, chemicals)  Illnesses (fevers, exposures to infections)  Problems (bleeding, pre-term labor, abnormal prenatal testing or ultrasound)  Birth history  Presentation: breech/cephalic/oblique  Delivery: vaginal, c-section (why?)  Neonatal course (complications/problems and days hospitalized)
  12. 12. History  Neonatal status  APGAR  Anthopometric measurements  Resuscitation  Newborn course  Feeding  Activity  Obvious deformities  Complications / issues
  13. 13. History  Past Medical History  Illnesses, hospitalizations, surgeries, immunizations, medications, allergies  A detailed review of systems.  Developmental History  Address parental concerns.  Determine ages for milestones (gross motor, fine motor, personal/social, language).  Determine current milestones (appropriate for age?).
  14. 14. Family history  Take a detailed, three-generation family history
  15. 15. Family history Ask for:  Birth defects  Other genetic diseases  Multiple miscarriages  Parental ages and health status  Consanguinity and geographic origin
  16. 16. Physical examination  Growth monitoring  Measurements of the child's weight, length, and head circumference should be plotted on the standardized growth charts.  General appearance  Body shape and size etc.
  17. 17. Physical examination
  18. 18. Investigations  Cytogenetics is a mainstay of diagnosis in dysmorphology.  However, chromosome studies are labour intensive and relatively expensive.  To be visible, a chromosome deletion or duplication probably involves at least 3–4 kilobases of DNA10 (perhaps 15–30 genes, depending upon the location and the chromosome).
  19. 19. Fluorescence in situ hybridization (FISH)  Prader-Willi syndrome  Angelman syndrome  Smith-Magenis syndrome  Miller-Dieker syndrome  Velo-cardio-facial syndrome  DiGeorge syndrome
  20. 20. Whole chromosome painting (WCP)  WCP is very useful for identifying the origin of additional chromosome material that is microscopically visible but not distinctive enough to be assigned to a specific chromosome.  It can also be used to search for light microscopically invisible (cryptic) translocations where suspicion of a chromosome abnormality remains, despite a normal standard karyotype.  The exchange of similarly sized and banded material between 2 chromosomes, which is not visible in a standard study, becomes visible because of the exchange of different colours.
  21. 21. Other investigations  Molecular (DNA) diagnostics  Biochemical lab testing (to rule out any inborn error of metabolism, storage diseases etc.)
  22. 22. The major problems of morphogenesis
  23. 23. Disruptions  Morphological alterations of structures after formation  Has low recurrence risk
  24. 24. Causes of disruption  Ionization (x-ray, radioactive substance exposure)  Hyperthermia  Infections  Teratogenic  Metabolic  Vascular disruption  Amnion rupture sequence
  25. 25. Deformations  Due to mechanical forces that mold a part of fetus over a prolonged time period  The musculoskeletal system may be involved, but may also be reversible post-natally
  26. 26. Breech presentation
  27. 27. Risks for fetal constraint  Maternal risk factors  Primigravida  Small uterus  Uterine malformation  Uterine fibromata  Small maternal pelvis  Fetal risk factors  Oligohydroamnios  Large fetus  Multiple gestation
  28. 28. Deformations related to breech presentation
  29. 29. Malformations
  30. 30. Disorders of lymphatic drainage
  31. 31. Cleft palate
  32. 32. Telecantus, hyper-/hypo-telorsim
  33. 33. Ear defects
  34. 34. Chin
  35. 35. Digit anomalies
  36. 36. Non-disjunction syndromes
  37. 37. Down syndrome (trisomy 21)  Low set ears  Hypotonia  Simian crease  Wide space between first and second toe  Flat face
  38. 38. Patau syndrome (trisomy 13)  Holoprosencephaly  Cutis aplasia  Microcephaly  Microphthalmia  Cleft lip +/- palate  Polydactyly  Congenital heart defect
  39. 39. Edwards syndrome (trisomy 18)  Weak cry  Polyhydroamnios  Growth deficiency  Low-set, malformed auricles  Clenched hand with overlapping fingers  Rocker bottom feet  Congenital heart defect
  40. 40. Klinefelter syndrome (47xxy)  Tall stature  Behavioral issues  Post-pubertal hypogonadism
  41. 41. Turner syndrome (45x) Not diagnosed until 5-6 yrs  Webbed neck  Shield chest  Cubitus vulgaris  Low hairline  Short stature  Renal anomalies  Cardiac anomalies (bicuspid aortic valve and coarctation of aorta)
  42. 42. Microdeleteions
  43. 43. Wolf hirshorn (4p)  Hypertelorism  Broad nasal bridge  Cleft lip +/- palate  Down turned mouth  Severe mental retardation
  44. 44. Cri-du-chat (5p)  Microcephaly  Growth retardation  High-pitched cat-like cry  Congenital heart disease  Hypotonia
  45. 45. Contiguous gene syndrome
  46. 46. Prader-willi syndrome (15q11)  Obesity  Hypotonia  Small hands and feet  Upward slanting palpebral fissures  IQ : 60 – 70  Micro-penis / cryptorchidism
  47. 47. Angelman syndrome (15q11)  Mental retardation  Puppet like gait  Paroxysms of inappropriate laughter  Absent / limited speech  Seizures
  48. 48. 22q11 deletion syndromes (Di-George, Velocardial-facial, Sprintzen)  Micrognathia  Low set ears  Short palpebral fissures  Blunted nose  High-arched palate  Cleft palate +/- bifid uvula
  49. 49. Autosomal dominant syndromes
  50. 50. Achondroplasia (FGFR3)  Rhizomelic shortening of limbs  Short fingers held in trident configuration  Elarged head with depressed nasal bridge
  51. 51. Neurofibromatosis  > 6 café-au-lait spots  >2 neurofibromas  Lisch nodules (iris hematoma)  Optic gliomas  Angiofibromas  Axillary or inguinal freckling
  52. 52. Osteogenesis imperfecta  Fractures  Osteopenia  Blue sclera  Hearing loss  Short stature  Four types
  53. 53. Autosomal recessive Cystic fibrosis Tay-Sacs disease Sickle cell anemia
  54. 54. Teratogens
  55. 55. Fetal alcohol syndrome
  56. 56. Quiz
  57. 57. What are the most appropriate genetic condition associated with the following physical findings?  Webbed neck  Macrosomia  Rhizometric shortening  Small hands  Café-au-lait spots
  58. 58. What are the most appropriate genetic condition associated with the following physical findings?  Upward slanting palpebral fissures  Downward slanting palpebral fissures  Lich nodules  Kayser-fleischer ring
  59. 59. Thank you

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