Pocket Pediatrics: The Massachusetts General Hospital for Children Handbook of Pediatrics (Pocket Notebook Series), 2 Ed.

TRISOMY 18

Definition (Am J Med Genet A 2006;140:1749; Nelson Textbook of Pediatrics, 17th ed.)

• Edwards syndrome

• 1.29:10,000 live births, large percentage terminated before birth

• Death frequently in 1st mo of life, 5% survival to 1st birthday

• Clinical findings: Closed fists w/ index finger overlapping 3rd digit and 5th digit overlapping 4th digit, rocker-bottom feet, microcephaly, micrognathia, cardiac/renal malform



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