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Dysmorphism

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an abnormality in morphologic development.dysmorphic
2. allomorphism.
3. ability to appear in different

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Dysmorphism

  1. 1. Dysmorphism 1. an abnormality in morphologic development.dysmorphic 2. allomorphism. 3. ability to appear in different morphological forms.
  2. 2. What is Dysmorphism? • Also called dysmorphia which in Greek means badness of form; this refers to the malformations or an abnormality in the shape and size of the body. • Dysmorphism can be facial or structural
  3. 3. What is body dysmorphic disorder or feature? • A dysmorphic feature is a difference of body structure. It can be an isolated finding in an otherwise normal individual, or it can be related to a congenital disorder, genetic syndrome, or birth defect. • Dysmorphic features can vary from isolated, mild anomalies such as clinodactyly or synophrys to severe congenital anomalies such as heart defects and holoprosencephaly
  4. 4. Common Dysmorphic features Wide spacing , between eyes, hypertelorism, Narrow spacing , between eyes, hypotelorism, Palpebral , fissure length, Epicanthal folds.
  5. 5. Common Dysmorphic Features Philtrum length „ Upper lip „ Shape of nose
  6. 6. Cause of Syndromes • • • • „ „ „ „ Chromosomal aneuploidy Single Gene abnormalities Teratogen exposure Environmental
  7. 7. Teratogens and Dysmorphology • • • • • • • Medications or drugs the developing fetus is exposed to can result in a number of birth defects. „ The timing of exposure and dose are important in determining the extent of the damage caused by a particular teratogen.
  8. 8. Chromosomal Aneuploidy • • • • • • • „ Nondisjuction resulting in the addition or loss of an entire chromosome „ Deletion of a part of a chromosome „ Microdeletion syndromes (small piece missing which is usually only detected using special techniques)
  9. 9. Common Chromosomal Syndromes caused by Nondisjuction • • • • • „ „ „ „ „ Down syndrome (trisomy 21) Patau syndrome (trisomy 13) Edwards syndrome (trisomy 18) Turner syndrome (monosomy X) Klinefelter syndrome (47,XXY)
  10. 10. Conclusion • • • • • • • „ There are many factors which are involved in the formation of structures . „ They interaction between genetics and environment is essential especially during early developmental stages

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