Trisomy 18 Syndrome (E Syndrome; Edwards Syndrome) 1
General: Chromosome 18 present in triplicate; more common in fema 242i87c les (3:1); age of mother over 40 years; onset from fetal life.
Ocular: Unilateral ptosis; epicanthal folds; congenital glaucoma; corneal opacities; lens opacities; optic atrophy.
Clinical: Low-set ears; micrognathia; high-arched palate; prominent occiput; cryptorchidism; failure to thrive; ventricular septal defect; hypertonicity with rigidity in flexion of limbs; mental retardation; umbilical and inguinal hernias.
Geeraets WJ. Ocular Syndromes, 3rd ed. Philadelphia: Lea & Febiger, 1976.
Magalini SI, Scrascia E. Dictionary of Medical Syndromes, 2nd ed. Philadelphia: JB Lippincott, 1981.
Menkes JH. Trisomy chromosome 18. In: Menkes JH, ed. Textbook of Child Neurology, 5th ed. Baltimore: Williams & Wilkins, 1995:221.
Townes PL, et al. Trisomy 18 (16-l8) associated with congenital glaucoma and optic atrophy. J Pediatr 1962; 61:755.
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