Table 1. Summary of clinical features frequently observed in patients with chromosome 1p36 deletion syndrome7 and the present case.
| Characteristics | Present case | Frequenciesa |
|---|---|---|
| Age at clinical evaluation | 4 months | 0–25 years |
|
Craniofacial and skeletal features | ||
| Characteristic craniofacial features | ||
| Microcephaly | − | 83 % (20/24) |
| Brachycephaly | − | 65 % (11/17) |
| Straight eyebrow | − | 84 % (32/38) |
| Deep-set eyes | − | 93 % (37/40) |
| Epicanthus | − | 86 % (30/35) |
| Broad nasal root/bridge | + | 97 % (32/33) |
| Long philtrum | ± | 63 % (22/35) |
| Low-set ears | + | 88 % (29/33) |
| Pointed chin | − | 89 % (34/38) |
| Late closure of the anterior fontanel | NA | 56 % (18/32) |
|
Neurological features (clinical) | ||
| Axial hypotonia | + | 92 % (44/48) |
| Poor sucking | ± | 70 % (32/46) |
| Difficulty in swallowing | − | 56 % (27/48) |
| Developmental delay | ||
| Intellectual disability | NA | 98 % (49/50) |
| Acquire independent gait | NA | 32 % (16/50) |
| Behavior disorders | ||
| Self-injury | NA | 30 % (11/37) |
| Temper tantrum | NA | 30 % (11/37) |
| Epilepsy | ||
| History of epilepsy | − | 70 % (35/50) |
|
Neurological features (radiological) | ||
| Cerebral white matter | ||
| Enlargement of lateral ventriclesb | + | 36 % (15/42) |
|
Cardiac abnormalities | ||
| Congenital heart defects | ||
| PDA | + | 37 % (18/49) |
| VSD | + | 37 % (18/49) |
|
Sensory organs | ||
| Ears | ||
| Hearing problems | Mild | 39 % (19/49) |
| Eyes | ||
| Strabismus | − | 33 % (15/46) |
Abbreviations: NA, not available; PDA, patent ductus arteriosus; VSD, ventricular septal defects.
a
Frequency of each clinical feature reported by Shimada et al.7 was shown. Only clinical features reported with high frequency (more than 30 %) were listed.
b
Enlargement of lateral ventricles was detected by computed tomography at 5 months of age and magnetic resonance imaging at 8 months of age.