REPORT ON 2 PATIENTS WITH COSTELLO SYNDROME AND SIALURIA

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 psychomot or retardation. The second is a 3-year-old boy with ''coarse'' face, l oose skin on hands and feet, curly hair, oral motor apraxia, severe gr owth and psychomotor retardation. In both patients urine sialic acid l evels were found to be repeatedly high. The meaning of this biochemica l abnormality is discussed. (C) 1993 Wiley-Liss, Inc.