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Key Features

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  • Incidence is about 1:4000 live births

  • Ratio of affected males to females is approximately 1:3

  • Characterized by

    • Prenatal and postnatal growth retardation, which is often severe

    • Hypertonicity

  • Complications are related to associated anomalies

  • Death is often caused by heart failure or pneumonia and usually occurs in infancy or early childhood

  • Small percentage reach adulthood; usually show significant cognitive disabilities

  • A support group for families is called SOFT (see http://www.trisomy.org/)

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Clinical Findings

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  • Small for gestational age

  • Dysmorphic features including a characteristic facies and extremities (overlapping fingers and rocker-bottom feet)

  • Congenital heart disease (often ventricular septal defect or patent ductus arteriosus)

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Diagnosis

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  • Rapid confirmation of suspected trisomy 18 can be made by fluorescence in situ hybridization(FISH)

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Treatment

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  • Supportive

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