Alkaptonuria: early detection.

The importance of identifying this anomaly is that it is associated with other congenital malformations in over 20% of cases, most commonly being associated with cardiovascular anomalies and congenital dislocation of hip. Of the 44 infants with this syndrome, Pape and Pickering found 27 to have major anomaly of skeletal, genitourinary, respiratory and cardiovascular systems. The disorder most commonly associated with this facial defect is congenital heart disease, the commonest defect being ventricular septal defect(2,4).