The tricho-rhino-phalangeal syndrome

The tricho-rhino-phalangeal syndrome is characterized by sparse fine hair, bulbous nose, and brachydactyly. The clinical and radiological findings of four affected family members, a father and his three children, are presented. Cardiovascular anomalies, previously unreported in this syndrome, were present in one of the children. Psychological and immunological evaluations were found to be essentially normal. The genetics of this condition and suggested counselling are presented.