SS was born with bilateral cauliflower ears and severe sensorineural deafness. He did not have the typical thumb malformations however, was born with talipes equinovarus. Nor did he have an imperforate anus but had Hirschsprung’s disease and required surgery with a colostomy formation. SS also suffers with schizophrenia. He has mild renal impairment with a serum creatinine of 116 micromol/L in 2004, but has since been lost to follow up.