Table 2.
Comparison to literature on Cantú features (adapted from van Bon et al. (2012)[6])
| Patient has | % Cantu patients | |
|---|---|---|
| Coarse face | Yes | 100% |
| Epicanthal folds | Yes | 100% |
| Abundant and/or curly eyelashes | Yes | 80% |
| Broad and/or flat nasal bridge | Broad nasal rout; bulbous nose | 90% |
| Small nose and/or anteverted nostrils | Anteverted nares | 100% |
| Prominent mouth and/or thick lips | Prominent mouth | 100% |
| Long philtrum | Yes | 100% |
| High and/or narrow palate | High arched palate | 60% |
| Macroglossy | Yes | 60% |
| Anterior open bite | Yes | 30% |
| Gingival hyperplasia | Yes | 70% |
| Short neck | No- normal neck | 50% |
| Cardiac Features | ||
| Structural cardiac anomalies | Abnormal connection from aorta to pulmonary artery (caused pulmonary hemorrhage) | 40% |
| Pulmonary hypertension | Yes | 20% |
| Pericardial effusion | No | 30% |
| Cardiomegaly | Yes | 60% |
| Hypertrophic and/or dilated cardiomyopathy | Yes- left ventricular hypertrophy | 40% |
| Radiological Findings | ||
| Generalized osteopenia | N/A | 10% |
| Thick calvarium | Yes | 50% |
| Delayed bone age | N/A | 30% |
| Enlarged sella turcica, vertical skull base | N/A | 10% |
| Narrow shoulders | N/A | 0% |
| Narrow thorax | “small thorax” | 30% |
| Broad ribs | Yes | 70% |
| Vertebral endplate irregularities | N/A | 20% |
| Platyspondyly | N/A | 40% |
| Ovoid vertebral bodies | N/A | 30% |
| Hypoplastic ischium and pubic bones | N/A | 0% |
| Narrow obturator foramen | N/A | 20% |
| Erlenmeyer-flask-like long bones | N/A | 50% |
| Bilateral coxa valga | N/A | 20% |
| Metaphyseal flare with enlarged medullary canal | n/a | 70% |
| Transverse metaphyseal bands | N/A | 0% |
| Other Features | ||
| Preaxial distal phalangeal hypoplasia | N/A | 10% |
| Short, broad first toe | Yes | 30% |
| Umbilical hernia | Yes | 40% |
| Pyloric stenosis | N/A | 10% |
| Immune deficiency | N/A | 20% |
| Wrinkled and/or loose skin | Yes | 30% |
| Deep palmar creases | Yes | 30% |
| Finger pads | Thickened pads on palms and soles | 30% |
| Hyperextensibility interphalangeal joints | Yes | 50% |
| Pectus carinatum | N/A | 20% |
| Genital anomalies | Large hydrocele | 30% |
| Scoliosis | No | 40% |
| Lymphedema | N/A | 40% |
| Increased tendency for upper GI bleeding | N/A | 0% |
| Renal anomalies | Yes | 0% |