We report on a child with the brachytelephalangic type of chondrodysplasia punctata which is a very rare form of the disease. At birth, the patient was originally diagnosed with the Conradi-Hunermann type, a more common and severe type. A pediatric radiologist questioned the diagnosis and followed-up with the patient who is now three years old. Based on the clinical and radiographic findings, it was concluded that he had the brachytelephalangic type. This is a unique case and demonstrates the necessity of communication among all health care personnel taking care of the patient. The diagnosis greatly affected the child’s future and education.