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trisomy 18

Epidemiology: 1 in 5000 live births Pathology: 1) congenital polyvalvular dysplasia 2) ventricular septal defect 3) patent ductus arteriosus Genetics: trisomy 18 Clinical manifestations: 1) clenched hand 2) short sternum 3) low-arch dermal-ridge pattern on fingertips 4) mental retardation 5) median age of survival is 9 days [3] 6) 10-13% survive to age 10 years [3] Laboratory: amniocentesis with genetic karyotyping Management: - 1-year survival 69% among patients undergoing surgery [3]

Related

fetal chromosome 18 trisomy

General

developmental disorder syndrome (multisystem disorder) genetic syndrome (multisystem disorder)

References

  1. Harrison's Principles of Internal Medicine, 14th ed. Fauci et al (eds), McGraw-Hill Inc. NY, 1998, pg 380
  2. Harrison's Principles of Internal Medicine, 13th ed. Isselbacher et al (eds), McGraw-Hill Inc. NY, 1994, pg 1038
  3. Nelson KE et al. Survival and surgical interventions for children with trisomy 13 and 18. JAMA 2016 Jul 26; 316:420. PMID: 27458947 http://jama.jamanetwork.com/article.aspx?articleid=2536636 - Lantos JD. Trisomy 13 and 18 - treatment decisions in a stable gray zone. JAMA 2016 Jul 26; 316:396 PMID: 27458943 http://jama.jamanetwork.com/article.aspx?articleid=2536606