Report on two 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 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.

[1]  L. Pavone,et al.  New multiple congenital anomalies: mental retardation syndrome (MCA/MR) with facio-cutaneous-skeletal involvement. , 1992, American journal of medical genetics.

[2]  K. Jones,et al.  Delineation of the Costello syndrome. , 1991, American journal of medical genetics.

[3]  R. Gatti,et al.  A simple detection of sialic acid storage disorders by urinary 'free' and 'total' sialic acid determinations. , 1985, Clinica chimica acta; international journal of clinical chemistry.

[4]  J. Costello.  A New Syndrome: Mental Subnormality and Nasal Papillomata , 1977, Australian paediatric journal.