A 2-year-old boy was born at term of healthy, non-consanguineous Iranian parents. His mother attended in the clinic with the history of sometimes discoloration of diapers after passing urine. She noticed that first at the age of one month with intensified in recent months. His Physical examination and growth parameters were normal. His mother denied taking any medication (sorbitol, nitrofuranto...

A 45-year-old man presented with low back pain evolving since 8 years associated sometimes with a radicular radiation. The clinical examination found a patient in good general condition, a loss of the lumbar lordosis, an exaggeration of the dorsal kyphosis with stiffness of the lumbar spine. The cutaneous-mucosal examination showed a brownish appearance of the ears, conjunctiva, and lower eyeli...

Over a 100 years ago, William Bateson provided, through his observations of the transmission of alkaptonuria in first cousin offspring, evidence of the application of Mendelian genetics to certain human traits and diseases. His work was corroborated by Archibald Garrod (Archibald AE. The incidence of alkaptonuria: a study in chemical individuality. Lancert 1902;ii:1616-20) and William Farabee (...