Down's syndrome Trisomy 21

Down's syndrome
  • Facts:
    MC chromosomal disorder and cause of mental retardation

    In addition to trisomy 21, may be caused by Robertsonian translocation
  • History / PE:
    Head and neck
    Upslanting palpebral fissures
    Epicanthic folds
    Brushfield spots
    Flat nasal bridge
    Folded or dysplastic ears
    Small ears
  • Diagnosis:
    Antenatal evaluation ( QUAD screen )
    Increased inhibin A, β hCG
    Decreased MSAFP, estriol
  • Complications:
    Pulmonary hypertension (from endocardial cushion defects)
  • See Also:
    Edward's syndrome (trisomy 18)
    Patau's syndrome (trisomy 13)
  • Associated With:
    1) Duodenal atresia
    2) Hirshsprung's disease
    3) Atrioventricular canal (ASD, VSD from endocardial cushion defects)
    4) Increased risk of acute lymphocytic leukemia (ALL)
    5) Hypothyroidism
    6) Early onset Alzheimer's
    7) Atlantoaxial instability (UMN findings)
    8) GERD

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August 26th 2010