Report on two patients with Costello syndrome and sialuria

M. Di Rocco, R. Gatti, P. Gandullia, A. Barabino, P. Picco, C. Borrone

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish
Pages (from-to)1135-1140
Number of pages6
JournalAmerican Journal of Medical Genetics
Volume47
Issue number7
DOIs
Publication statusPublished - 1993

Keywords

  • nasal papillomata
  • oral motor apraxia
  • redundant skin

ASJC Scopus subject areas

  • Genetics(clinical)

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