Received: 15 April 1999 Accepted in revised form: 27 May 1999 R. Kishore Kumar (&) á S. P. Nagi North West Regional Hospital and University of Tasmania, PO Box 258, Burnie TAS 7320, Australia e-mail: R.Kumar@utas.edu.au Tel.: +61-3-64306666 Fax: +61-3-64306685 Case history A 5-year-old boy was referred to the paediatric clinic for an opinion of his developmental and signi®cant speech delay. He was born at full term by normal vaginal delivery to non-con- sanguineous Caucasian parents. He had been seen by two other paediat- ricians in the past and has had numerous blood tests to determine whether he had any underlying problem. On review he was noted to be extremely small with weight of 14 kg and a height of 102 cm (pa- ternal height 186.6 cm), both lying below the third percentile, and a head circumference of 50.5 cm falling be- low the 50th percentile for his chro- nological age. Developmental as- sessment revealed delayed motor skills with a signi®cant speech delay and mild mental retardation. He had mid-facial hypoplasia, a bulbous nose, wide columella, short philtrum, thin lips, broad mouth, triangular face, a low hair line and minimal brachydactyly (Fig. 1). Bone age was 2 years behind his chronological age and growth hormone and somatomedin levels were within normal limits. Chromosomal analysis revealed a normal 46 XY karyotype and no evidence of a 22q deletion. Fig. 1 A 5-year-old boy with abnormal features (as described in the case history), short stature and expressive dysphasia R. Kishore Kumar S. P. Nagi A child with abnormal features and expressive dysphasia Eur J Pediatr (2000) 159: 119±120 Ó Springer-Verlag 2000 YOUR DIAGNOSIS?