Clinical features of the 3 patients described with syndromic thrombocytopenia
| Feature . | Patient 1 (male) . | Patient 2 (female) . | Patient 3 (female) . |
|---|---|---|---|
| Race-ethnicity | White-European | White-European/Filipino | White-Hispanic |
| Age thrombocytopenia first detected, mo | 18 | 19 | 9 |
| Average platelet count, × 109/L (platelets/mm3) | 78.0 (78 000) | 60.0 (60 000) | 74.0 (74 000) |
| Other hematologic findings | MDS/AML at age 6 y | Macrocytosis | — |
| Birth weight, g (percentile) | 2920 (25th) | 2041 (<3rd) | 1955 (<3rd) |
| Growth delay | + | + (gastric tube) | + |
| Developmental delay | Fine motor | Global | Global |
| FOC* | 5th-10th percentile | <3rd percentile | <3rd percentile |
| Weight* | 5th percentile | <3rd percentile | <3rd percentile |
| Height* | <3rd percentile | <3rd percentile | <3rd percentile |
| Eyes | Hypertelorism, almond-shaped | Hypertelorism, epicanthal folds, sparse eyebrows | Hypertelorism, epicanthal folds, small/deep-set, strabismus |
| Palate/mouth | High-arched/abnormal enamel | Intact/smooth philtrum | Intact |
| Nose | Anteverted, broad nasal root | Short, anteverted | Flat nasal bridge |
| Chest | Inverted nipples | Inverted nipples | Inverted nipples |
| Skull | Prominent forehead | Normocephalic | High, broad forehead; flat occiput |
| Other anomalies | Transposition of great arteries, absence of left testis | Toenail hypoplasia, delayed myelination and dysgenic corpus callosum | Neonatal seizures, alopecia |
| Feature . | Patient 1 (male) . | Patient 2 (female) . | Patient 3 (female) . |
|---|---|---|---|
| Race-ethnicity | White-European | White-European/Filipino | White-Hispanic |
| Age thrombocytopenia first detected, mo | 18 | 19 | 9 |
| Average platelet count, × 109/L (platelets/mm3) | 78.0 (78 000) | 60.0 (60 000) | 74.0 (74 000) |
| Other hematologic findings | MDS/AML at age 6 y | Macrocytosis | — |
| Birth weight, g (percentile) | 2920 (25th) | 2041 (<3rd) | 1955 (<3rd) |
| Growth delay | + | + (gastric tube) | + |
| Developmental delay | Fine motor | Global | Global |
| FOC* | 5th-10th percentile | <3rd percentile | <3rd percentile |
| Weight* | 5th percentile | <3rd percentile | <3rd percentile |
| Height* | <3rd percentile | <3rd percentile | <3rd percentile |
| Eyes | Hypertelorism, almond-shaped | Hypertelorism, epicanthal folds, sparse eyebrows | Hypertelorism, epicanthal folds, small/deep-set, strabismus |
| Palate/mouth | High-arched/abnormal enamel | Intact/smooth philtrum | Intact |
| Nose | Anteverted, broad nasal root | Short, anteverted | Flat nasal bridge |
| Chest | Inverted nipples | Inverted nipples | Inverted nipples |
| Skull | Prominent forehead | Normocephalic | High, broad forehead; flat occiput |
| Other anomalies | Transposition of great arteries, absence of left testis | Toenail hypoplasia, delayed myelination and dysgenic corpus callosum | Neonatal seizures, alopecia |
FOC indicates fronto-occipital circumference; and MDS/AML, myelodysplastic syndrome and acute myelogenous leukemia.
Measurements at last clinical evaluation.