Clinical and hematologic findings
. | Kindred 1-sibling 1 . | Kindred 1-sibling 2 . | Kindred 2-sibling 1 . | Kindred 2-sibling 2 . |
|---|---|---|---|---|
| Clinical findings | ||||
| Aplastic anemia | No | No | No | No |
| Hyperpigmentation (café-au-lait spots) | Yes | Yes | No | No |
| Thumb and radial anomalies | No | No | No | Bifid thumb |
| Skeletal anomalies | No | No | No | No |
| Congenital kidney defects | No | No | No | No |
| Microcephaly or microphthalmia | Yes | Yes | Yes | Yes |
| Mental retardation or learning disabilities | No | No | No | No |
| Low birth weight | No | No | Yes | Yes |
| Gastrointestinal defects | No | No | No | No |
| Heart defects | Yes | No | No | No |
| Tumor | Medulloblastoma | Wilms tumor; medulloblastoma | Wilms tumor; AML | T-cell ALL |
| Hematologic findings | ||||
| RBC count, × 1012/L | 4.29 (4.6) | 5.34 (4.5) | NA | 4.28 (4.6) |
| Hemoglobin, g/L | 132 (125) | 114 (120) | NA | 126 (125) |
| Hematocrit | 0.384 (0.37) | 0.373 (0.36) | NA | 0.361 (0.37) |
| MCV, fL | 90 (81) | 70 (78) | NA | 84 (81) |
| WBC count, × 109/L | 16.8 (6-17) | 5.4 (6-17.5) | NA | 13.4 (6-17) |
| Platelet count, × 109/L | 522 | 334 | NA | 194 |
. | Kindred 1-sibling 1 . | Kindred 1-sibling 2 . | Kindred 2-sibling 1 . | Kindred 2-sibling 2 . |
|---|---|---|---|---|
| Clinical findings | ||||
| Aplastic anemia | No | No | No | No |
| Hyperpigmentation (café-au-lait spots) | Yes | Yes | No | No |
| Thumb and radial anomalies | No | No | No | Bifid thumb |
| Skeletal anomalies | No | No | No | No |
| Congenital kidney defects | No | No | No | No |
| Microcephaly or microphthalmia | Yes | Yes | Yes | Yes |
| Mental retardation or learning disabilities | No | No | No | No |
| Low birth weight | No | No | Yes | Yes |
| Gastrointestinal defects | No | No | No | No |
| Heart defects | Yes | No | No | No |
| Tumor | Medulloblastoma | Wilms tumor; medulloblastoma | Wilms tumor; AML | T-cell ALL |
| Hematologic findings | ||||
| RBC count, × 1012/L | 4.29 (4.6) | 5.34 (4.5) | NA | 4.28 (4.6) |
| Hemoglobin, g/L | 132 (125) | 114 (120) | NA | 126 (125) |
| Hematocrit | 0.384 (0.37) | 0.373 (0.36) | NA | 0.361 (0.37) |
| MCV, fL | 90 (81) | 70 (78) | NA | 84 (81) |
| WBC count, × 109/L | 16.8 (6-17) | 5.4 (6-17.5) | NA | 13.4 (6-17) |
| Platelet count, × 109/L | 522 | 334 | NA | 194 |
Age-appropriate values are in parentheses.
RBC indicates red blood cell; MCV, mean corpuscular volume; WBC, white blood cell; NA, not available.