Table 1

Clinical findings

Clinical findings Totals
Low IQ (range 29–54)1-150 3/3
Normal head circumference and eye measurements5/5
Short stature (<10th centile)5/5
Truncal obesity4/5
Prominent lower lip4/5
High palate3/5
Testes (<10th centile)4/5
Small feet (adult shoe sizes 6–7)5/5
Gap between 1 & 2 toes3/5
Hyperextensible joints5/5
Kyphosis4/5
Fine tremor4/6
Muscle wasting lower leg5/5
Wide based gait1-151 3/3
Decreased fine motor coordination5/5
Impaired or absent speech4/5
Decreased attention span5/5
Hyperactivity5/5
Mood swings5/5
Aggressive behaviour3/5

  • ↵1-150 IQ data obtained from available clinical reports for three affected males: five affected males were retarded by clinical examination and history.

  • ↵1-151 Two were wheelchair bound and could not be evaluated.