Report on two patients with Costello syndrome and sialuria

Am J Med Genet. 1993 Nov 15;47(7):1135-40. doi: 10.1002/ajmg.1320470737.


We report on 2 unrelated patients with Costello syndrome. The first is a 5-year-old girl with "coarse" face, nasal papillomata, redundant skin of feet and hands, hyperextensible hand and finger joints, curly hair, feeding problems due to oral motor apraxia, growth and psychomotor retardation. The second is a 3-year-old boy with "coarse" face, loose skin on hands and feet, curly hair, oral motor apraxia, severe growth and psychomotor retardation. In both patients urine sialic acid levels were found to be repeatedly high. The meaning of this biochemical abnormality is discussed.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Abnormalities, Multiple / urine
  • Child, Preschool
  • Face / abnormalities
  • Feeding and Eating Disorders / genetics
  • Female
  • Growth Disorders / genetics
  • Humans
  • Intellectual Disability / genetics
  • Limb Deformities, Congenital
  • Male
  • N-Acetylneuraminic Acid
  • Nose Neoplasms / genetics
  • Papilloma / genetics
  • Sialic Acids / urine*
  • Skin Abnormalities
  • Syndrome


  • Sialic Acids
  • N-Acetylneuraminic Acid