Table 1.
Major and minimal clinical criteria for diagnosis of Dyskeratosis Congenita.
| Clinical feature/abnormality | % of pts |
|---|---|
| Major/common features | |
| Abnormal skin pigmentation | 89 |
| Nail dystrophy | 88 |
| Bone marrow failure | 85.5 |
| Leucoplakia | 78 |
| Other recognized somatic features | |
| Epiphora | 30.5 |
| Learning difficulties/developmental delay/mental retardation | 25.4 |
| Pulmonary disease/fibrosis | 20.3 |
| Short stature | 19.5 |
| Extensive dental caries/loss | 16.9 |
| Esophageal stricture | 16.9 |
| Premature hair loss/greying/sparse eyelashes | 16.1 |
| Hyperhiderosis | 15.3 |
| Malignancy (Solid tumors/Acute myeloid leukemia) | 9.8 |
| Intrauterine growth retardation | 7.6 |
| Liver disease/peptic ulceration/enteropathy | 7.3 |
| Ataxia/cerebellar hypoplasia | 6.8 |
| Hypogonadism/undescended testes | 5.9 |
| Microcephaly | 5.9 |
| Urethral stricture/phimosis | 5.1 |
| Osteoporosis/aseptic necrosis/scoliosis | 5.1 |
| Deafness | 0.8 |