ESAM
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 66.7% | 8/12 |
| Female | 33.3% | 4/12 |
| Indifferent | 0% | 0/12 |
| Unknown | 0% | 0/12 |
| General | ||
| Birth Length abnormalities | 8.3% | 1/12 |
| < P3 : Birth length less than 3rd percentile | 8.3% | 1/12 |
| Birth Weight abnormalities | 8.3% | 1/12 |
| < P3 : Small for gestational age | 8.3% | 1/12 |
| Birth Head circumference abnormalities | 8.3% | 1/12 |
| < P3 : Primary microcephaly | 8.3% | 1/12 |
| Current Height abnormalities | 16.7% | 2/12 |
| < P3 : Short stature | 16.7% | 2/12 |
| Current Weight abnormalities | 16.7% | 2/12 |
| < P3 : Decreased body weight | 16.7% | 2/12 |
| Current Head circumference abnormalities | 25.0% | 3/12 |
| < P3 : Microcephaly | 25.0% | 3/12 |
| Neurology | ||
| Neurological abnormalities | 100.0% | 9/9 |
| Spasticity | 66.7% | 6/9 |
| Neonatal hypotonia | 55.6% | 5/9 |
| Seizure | 55.6% | 5/9 |
| Hypotonia | 44.4% | 4/9 |
| Poor head control | 44.4% | 4/9 |
| Focal myoclonic seizure | 22.2% | 2/9 |
| Spastic tetraparesis | 22.2% | 2/9 |
| Bilateral tonic-clonic seizure | 11.1% | 1/9 |
| Cerebral calcification | 11.1% | 1/9 |
| Dystonia | 11.1% | 1/9 |
| Focal-onset seizure | 11.1% | 1/9 |
| Hyperreflexia | 11.1% | 1/9 |
| Hypsarrhythmia | 11.1% | 1/9 |
| Limb hypertonia | 11.1% | 1/9 |
| Brain abnormality | 100.0% | 12/12 |
| Lateral ventricle dilatation | 91.7% | 11/12 |
| Intracranial hemorrhage | 83.3% | 10/12 |
| Abnormal corpus callosum morphology | 66.7% | 8/12 |
| Hydrocephalus | 66.7% | 8/12 |
| Focal white matter lesions | 50.0% | 6/12 |
| Periventricular leukomalacia | 25.0% | 3/12 |
| Cerebral calcification | 16.7% | 2/12 |
| Intracerebral periventricular calcifications | 16.7% | 2/12 |
| Porencephalic cyst | 16.7% | 2/12 |
| Basal ganglia calcification | 8.3% | 1/12 |
| Cerebral edema | 8.3% | 1/12 |
| Colpocephaly | 8.3% | 1/12 |
| Corpus callosum atrophy | 8.3% | 1/12 |
| Cystic hygroma | 8.3% | 1/12 |
| Hydranencephaly | 8.3% | 1/12 |
| Multifocal cerebral white matter abnormalities | 8.3% | 1/12 |
| Partial absence of the septum pellucidum | 8.3% | 1/12 |
| Periventricular cysts | 8.3% | 1/12 |
| Polymicrogyria | 8.3% | 1/12 |
| Facial abnormalities | ||
| Abnormality of the ear | 9.1% | 1/11 |
| obsolete Low-set, posteriorly rotated ears | 9.1% | 1/11 |
| Abnormality of the eye | 66.7% | 8/12 |
| Highly arched eyebrow | 41.7% | 5/12 |
| Long eyelashes | 33.3% | 4/12 |
| Upslanted palpebral fissure | 25.0% | 3/12 |
| Iris coloboma | 8.3% | 1/12 |
| Nystagmus | 8.3% | 1/12 |
| Retinal hemorrhage | 8.3% | 1/12 |
| Synophrys | 8.3% | 1/12 |
| Abnormality of the nose | 58.3% | 7/12 |
| Bulbous nose | 41.7% | 5/12 |
| Wide nasal bridge | 25.0% | 3/12 |
| Anteverted nares | 8.3% | 1/12 |
| Abnormality of the mouth | 58.3% | 7/12 |
| High, narrow palate | 25.0% | 3/12 |
| Microretrognathia | 25.0% | 3/12 |
| Everted lower lip vermilion | 16.7% | 2/12 |
| Mandibular prognathia | 16.7% | 2/12 |
| Smooth philtrum | 16.7% | 2/12 |
| Tented upper lip vermilion | 16.7% | 2/12 |
| Visual and hearing impairments | ||
| Abnormal vision | 50.0% | 6/12 |
| Retinal hemorrhage | 25.0% | 3/12 |
| Amblyopia | 16.7% | 2/12 |
| Retinal arterial tortuosity | 16.7% | 2/12 |
| Retinal detachment | 8.3% | 1/12 |
| Vitreous hemorrhage | 8.3% | 1/12 |
| Heart | ||
| Abnormality of the heart | 25.0% | 3/12 |
| Patent foramen ovale | 16.7% | 2/12 |
| Abnormal ventricular septum morphology | 8.3% | 1/12 |
| Cardiomegaly | 8.3% | 1/12 |
| Tricuspid regurgitation | 8.3% | 1/12 |
| Ventricular septal defect | 8.3% | 1/12 |
| Pulmonary | ||
| Abnormality of the lungs | 25.0% | 3/12 |
| Respiratory insufficiency | 16.7% | 2/12 |
| Tracheomalacia | 16.7% | 2/12 |
| Aplasia/Hypoplasia of the lungs | 8.3% | 1/12 |
| Atelectasis | 8.3% | 1/12 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 16.7% | 2/12 |
| Gastrostomy tube feeding in infancy | 8.3% | 1/12 |
| Splenic cyst | 8.3% | 1/12 |
| Urogenital | ||
| Abnormality of the urogenital system | 8.3% | 1/12 |
| Cryptorchidism | 8.3% | 1/12 |
| Skeleton | ||
| Skeletal abnormalities | 33.3% | 4/12 |
| Hammertoe | 25.0% | 3/12 |
| Talipes equinovarus | 25.0% | 3/12 |
| Finger joint hypermobility | 16.7% | 2/12 |
| Pectus excavatum | 16.7% | 2/12 |
| Narrow forehead | 8.3% | 1/12 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 16.7% | 2/12 |
| Hypertrichosis | 8.3% | 1/12 |
| Profuse pigmented skin lesions | 8.3% | 1/12 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the endocrine system | 9.1% | 1/11 |
| Pancreatitis | 9.1% | 1/11 |