Clinical features of probands and affected family members
| Family . | Individual . | Hematologic features . | Mucocutaneous features . | Other abnormalities . |
|---|---|---|---|---|
| 1 | Index | MDS | FH ovarian and prostate cancer | |
| 2 | Index | BMF | FH macrocytic anemia | |
| 3 | Index | BMF | ||
| 3 | Brother | BMF | LD, finger clubbing | |
| 3 | Brother | BMF | Premature greying, hair loss | |
| 3 | Sister | Low wbc | PF | |
| 4 | Index | BMF | LD, PF, premature greying, hair loss | |
| 5 | Index | ND, SP | PF, premature greying | |
| 5 | Father | BMF | LD, premature greying | |
| 5 | Sister | BMF | COPD, premature greying | |
| 6 | Index | BMF | ||
| 7 | Index | BMF | ND, SP | Dental, renal failure |
| 7 | Sister | BMF | ND | |
| 7 | Father | ND | ||
| 8 | Index | BMF | CH, MC, ataxia | |
| 8 | Sister | CH, MC | ||
| 9 | Index | AML | ND | Hair loss |
| 10 | Index | BMF | ND, LP | CH, MC |
| 11 | Index | BMF | LP | Dental, aseptic necrosis, tongue cancer |
| 12 | Index | BMF | ||
| 12 | Mother | BMF | ||
| 13 | Index | BMF | ND, LP | Low birth weight |
| 14 | Index | BMF | LD, PF, dental | |
| 14 | Brother | LD, PF | ||
| 14 | Mother | PF | ||
| 15 | Index | BMF | Premature greying | |
| 15 | Sister | Premature greying | ||
| 16 | Index | LD, PF | ||
| 17 | Index | BMF | ||
| 17 | Mother | Premature greying | ||
| 18 | Index | ND, SP, LP | PF, dental | |
| 18 | Sister | ND, SP, LP | PF | |
| 19 | Index | BMF | LP | CH, MC, low birth weight, scoliosis |
| 20 | Index | MDS | ||
| 21 | Index | ID | SP café au lait spot | MC, low birth weight |
| 22 | Index | BMF | LP | CH |
| 22 | Sister | CH | ||
| 22 | Father | BMF | ND, SP, LP | Hair loss, premature greying |
| 23 | Index | BMF | ND, SP, LP | |
| 23 | Brother | LP |
| Family . | Individual . | Hematologic features . | Mucocutaneous features . | Other abnormalities . |
|---|---|---|---|---|
| 1 | Index | MDS | FH ovarian and prostate cancer | |
| 2 | Index | BMF | FH macrocytic anemia | |
| 3 | Index | BMF | ||
| 3 | Brother | BMF | LD, finger clubbing | |
| 3 | Brother | BMF | Premature greying, hair loss | |
| 3 | Sister | Low wbc | PF | |
| 4 | Index | BMF | LD, PF, premature greying, hair loss | |
| 5 | Index | ND, SP | PF, premature greying | |
| 5 | Father | BMF | LD, premature greying | |
| 5 | Sister | BMF | COPD, premature greying | |
| 6 | Index | BMF | ||
| 7 | Index | BMF | ND, SP | Dental, renal failure |
| 7 | Sister | BMF | ND | |
| 7 | Father | ND | ||
| 8 | Index | BMF | CH, MC, ataxia | |
| 8 | Sister | CH, MC | ||
| 9 | Index | AML | ND | Hair loss |
| 10 | Index | BMF | ND, LP | CH, MC |
| 11 | Index | BMF | LP | Dental, aseptic necrosis, tongue cancer |
| 12 | Index | BMF | ||
| 12 | Mother | BMF | ||
| 13 | Index | BMF | ND, LP | Low birth weight |
| 14 | Index | BMF | LD, PF, dental | |
| 14 | Brother | LD, PF | ||
| 14 | Mother | PF | ||
| 15 | Index | BMF | Premature greying | |
| 15 | Sister | Premature greying | ||
| 16 | Index | LD, PF | ||
| 17 | Index | BMF | ||
| 17 | Mother | Premature greying | ||
| 18 | Index | ND, SP, LP | PF, dental | |
| 18 | Sister | ND, SP, LP | PF | |
| 19 | Index | BMF | LP | CH, MC, low birth weight, scoliosis |
| 20 | Index | MDS | ||
| 21 | Index | ID | SP café au lait spot | MC, low birth weight |
| 22 | Index | BMF | LP | CH |
| 22 | Sister | CH | ||
| 22 | Father | BMF | ND, SP, LP | Hair loss, premature greying |
| 23 | Index | BMF | ND, SP, LP | |
| 23 | Brother | LP |
AML, acute myeloid leukemia; BMF, bone marrow failure; CH, cerebellar hypoplasia; COPD, chronic obstructive pulmonary disease; FH, family history; ID, immune deficiency; LD, liver disease; LP, leukoplakia; MC, microcephaly; MDS, myelodysplastic syndrome; ND, nail dystrophy; PF, pulmonary fibrosis; SP, abnormal skin pigmentation; wbc, white blood cell count.