= TRISOMY 13–15 GROUP SYNDROME

Etiology: additional chromosome in D group; high maternal age

• severe mental retardation
• hypertonic infant
• cleft lip + palate

Associated with: capillary hemangioma of face + upper trunk

• hypotelorism; coloboma, cataract, microphthalmia
• malformed ear with hypoplastic external auditory canal
• hyperconvex nails
• postaxial polydactyly
• Skull
  • deficient ossification of skull
  • cleft / absent midline structures of facial bones
  • poorly formed orbits
  • slanting of frontal bones
  • microcephaly
  • arrhinencephaly
  • holoprosencephaly
• Chest
  • thin malformed ribs
  • diaphragmatic hernia (frequent)
  • congenital heart disease

Prognosis: death within 6 months of age