Approach to a child with dysmorphism
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This document provides an overview of evaluating a child with dysmorphism or congenital anomalies. It discusses taking a thorough history, including pregnancy, birth, medical, family histories. A detailed physical exam evaluates growth, appearance, specific anomalies. Investigations may include cytogenetics, FISH, biochemical tests to identify genetic or metabolic causes. Major categories of anomalies are discussed - malformations caused by disruptions, deformations from mechanical forces, and syndromes caused by chromosomal or single gene disorders. Specific genetic syndromes are reviewed based on their characteristic physical findings. The document aims to guide clinicians in recognizing patterns of anomalies and determining the likely genetic or environmental etiology.
![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)](https://image.slidesharecdn.com/approachtoachildwithdysmorphism-150421142621-conversion-gate01/85/Approach-to-a-child-with-dysmorphism-13-320.jpg)
Approach to a child with dysmorphism
- 1. Approach to a child with dysmorphism Dr. Syeda Ismat Bukhari
- 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. 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. Understand the difference Major malformation with medical +/- social implications often require surgical repair Minor malformation are of cosmetic significance sometimes Normal variants
- 5. Incidence Major congenital anomalies At birth 2 – 3 % At 5 yrs 4 – 6 % Minor congenital anomalies At birth 15 %
- 6. The importance of recognizing minor anomalies Minor anomalies are often indicators for relevant major anomalies.
- 8. 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
- 9. History of intrauterine development
- 13. 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)
- 14. History Neonatal status APGAR Anthopometric measurements Resuscitation Newborn course Feeding Activity Obvious deformities Complications / issues
- 15. 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?).
- 16. Family history Take a detailed, three-generation family history
- 17. Family history Ask for: Birth defects Other genetic diseases Multiple miscarriages Parental ages and health status Consanguinity and geographic origin
- 18. 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.
- 20. 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).
- 21. Fluorescence in situ hybridization (FISH) Prader-Willi syndrome Angelman syndrome Smith-Magenis syndrome Miller-Dieker syndrome Velo-cardio-facial syndrome DiGeorge syndrome
- 22. 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.
- 23. Other investigations Molecular (DNA) diagnostics Biochemical lab testing (to rule out any inborn error of metabolism, storage diseases etc.)
- 24. The major problems of morphogenesis
- 25. Disruptions Morphological alterations of structures after formation Has low recurrence risk
- 26. Causes of disruption Ionization (x-ray, radioactive substance exposure) Hyperthermia Infections Teratogenic Metabolic Vascular disruption Amnion rupture sequence
- 28. 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
- 30. 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
- 31. Deformations related to breech presentation
- 32. Malformations
- 33. Disorders of lymphatic drainage
- 35. Cleft palate
- 37. Ear defects
- 41. Chin
- 42. Digit anomalies
- 51. Down syndrome (trisomy 21) Low set ears Hypotonia Simian crease Wide space between first and second toe Flat face
- 52. Patau syndrome (trisomy 13) Holoprosencephaly Cutis aplasia Microcephaly Microphthalmia Cleft lip +/- palate Polydactyly Congenital heart defect
- 53. Edwards syndrome (trisomy 18) Weak cry Polyhydroamnios Growth deficiency Low-set, malformed auricles Clenched hand with overlapping fingers Rocker bottom feet Congenital heart defect
- 54. Klinefelter syndrome (47xxy) Tall stature Behavioral issues Post-pubertal hypogonadism
- 55. 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)
- 56. Microdeleteions
- 57. Wolf hirshorn (4p) Hypertelorism Broad nasal bridge Cleft lip +/- palate Down turned mouth Severe mental retardation
- 58. Cri-du-chat (5p) Microcephaly Growth retardation High-pitched cat-like cry Congenital heart disease Hypotonia
- 60. Prader-willi syndrome (15q11) Obesity Hypotonia Small hands and feet Upward slanting palpebral fissures IQ : 60 – 70 Micro-penis / cryptorchidism
- 61. Angelman syndrome (15q11) Mental retardation Puppet like gait Paroxysms of inappropriate laughter Absent / limited speech Seizures
- 62. 22q11 deletion syndromes (Di-George, Velocardial-facial, Sprintzen) Micrognathia Low set ears Short palpebral fissures Blunted nose High-arched palate Cleft palate +/- bifid uvula
- 64. Achondroplasia (FGFR3) Rhizomelic shortening of limbs Short fingers held in trident configuration Elarged head with depressed nasal bridge
- 65. Neurofibromatosis > 6 café-au-lait spots >2 neurofibromas Lisch nodules (iris hematoma) Optic gliomas Angiofibromas Axillary or inguinal freckling
- 66. Osteogenesis imperfecta Fractures Osteopenia Blue sclera Hearing loss Short stature Four types
- 67. Autosomal recessive Cystic fibrosis Tay-Sacs disease Sickle cell anemia
- 68. Teratogens
- 70. Quiz
- 71. What are the most appropriate genetic condition associated with the following physical findings? Webbed neck Macrosomia Rhizometric shortening Small hands Café-au-lait spots
- 72. 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
- 73. Thank you