CPE
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 50.0% | 2/4 |
| Female | 50.0% | 2/4 |
| Indifferent | 0% | 0/4 |
| Unknown | 0% | 0/4 |
| General | ||
| Birth Length abnormalities | 0% | 0/4 |
| Birth Weight abnormalities | 0% | 0/4 |
| Birth Head circumference abnormalities | 0% | 0/4 |
| Current Height abnormalities | 0% | 0/4 |
| Current Weight abnormalities | 100.0% | 4/4 |
| > P98 : Increased body weight | 100.0% | 4/4 |
| Current Head circumference abnormalities | 50.0% | 2/4 |
| > P98 : Macrocephaly | 50.0% | 2/4 |
| Neurology | ||
| Neurological abnormalities | 100.0% | 2/2 |
| Infantile muscular hypotonia | 100.0% | 2/2 |
| Behavioral problems | 75.0% | 3/4 |
| Aggressive behavior | 50.0% | 2/4 |
| Behavioral abnormality | 50.0% | 2/4 |
| Autistic behavior | 25.0% | 1/4 |
| Oppositional defiant disorder | 25.0% | 1/4 |
| Stereotypic behavior | 25.0% | 1/4 |
| Brain abnormality | 33.3% | 1/3 |
| Cerebral cortical atrophy | 33.3% | 1/3 |
| Cerebellar atrophy | 33.3% | 1/3 |
| Facial abnormalities | ||
| Abnormality of the ear | 25.0% | 1/4 |
| Low-set, posteriorly rotated ears | 25.0% | 1/4 |
| Protruding ear | 25.0% | 1/4 |
| Abnormality of the eye | 100.0% | 4/4 |
| Periorbital fullness | 75.0% | 3/4 |
| Short palpebral fissure | 75.0% | 3/4 |
| Epicanthus | 50.0% | 2/4 |
| Hypertelorism | 50.0% | 2/4 |
| Synophrys | 50.0% | 2/4 |
| Downslanted palpebral fissures | 25.0% | 1/4 |
| Small palpebral fissure | 25.0% | 1/4 |
| Abnormality of the nose | 100.0% | 4/4 |
| Low hanging columella | 100.0% | 4/4 |
| Wide nasal bridge | 50.0% | 2/4 |
| Abnormality of the mouth | 100.0% | 4/4 |
| Everted lower lip vermilion | 100.0% | 4/4 |
| Exaggerated cupid's bow | 100.0% | 4/4 |
| Thin upper lip vermilion | 50.0% | 2/4 |
| Everted upper lip vermilion | 25.0% | 1/4 |
| Visual and hearing impairments | ||
| Abnormal vision | 50.0% | 2/4 |
| Exotropia | 25.0% | 1/4 |
| Hypermetropia | 25.0% | 1/4 |
| Heart | ||
| Abnormality of the heart | 50.0% | 2/4 |
| Hypertension | 25.0% | 1/4 |
| Ventricular septal defect | 25.0% | 1/4 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 50.0% | 2/4 |
| Esophageal varix | 25.0% | 1/4 |
| Hepatic steatosis | 25.0% | 1/4 |
| Hepatomegaly | 25.0% | 1/4 |
| Urogenital | ||
| Abnormality of the urogenital system | 50.0% | 2/4 |
| Enuresis nocturna | 50.0% | 2/4 |
| Bilateral cryptorchidism | 25.0% | 1/4 |
| Enuresis diurna | 25.0% | 1/4 |
| External genital hypoplasia | 25.0% | 1/4 |
| Skeleton | ||
| Skeletal abnormalities | 100.0% | 4/4 |
| Pes planus | 75.0% | 3/4 |
| Brachydactyly syndrome | 50.0% | 2/4 |
| Joint hypermobility | 25.0% | 1/4 |
| Short foot | 25.0% | 1/4 |
| Small hand | 25.0% | 1/4 |
| Valgus foot deformity | 25.0% | 1/4 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 75.0% | 3/4 |
| Hypoplastic fingernail | 50.0% | 2/4 |
| Hypoplastic toenails | 50.0% | 2/4 |
| Nail dystrophy | 50.0% | 2/4 |
| Acanthosis nigricans | 25.0% | 1/4 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the endocrine system | 100.0% | 4/4 |
| Obesity | 100.0% | 4/4 |
| Hypothyroidism | 75.0% | 3/4 |
| Polyphagia | 75.0% | 3/4 |
| Hypercholesterolemia | 50.0% | 2/4 |
| Hypertriglyceridemia | 50.0% | 2/4 |
| Adrenal insufficiency | 25.0% | 1/4 |
| Amenorrhea | 25.0% | 1/4 |
| Hypogonadotrophic hypogonadism | 25.0% | 1/4 |
| Insulin resistance | 25.0% | 1/4 |
| Menstrual irregularities | 25.0% | 1/4 |
| Abnormality of the immune system | 25.0% | 1/4 |
| Bone marrow hypocellularity | 25.0% | 1/4 |
| Thrombocytopenia | 25.0% | 1/4 |