Table 1.
Summary of frequencies of Clinical features of subject 5889 vs typical WS
| Typical WS | Subject 5889 | |
|---|---|---|
| Craniofacial | ||
| Bitemporal Narrowing | + | + |
| Stellate Iris | + | + |
| Epicanthal Folds | + | + |
| Periorbital Fullness | + | + |
| Medial Eyebrow | + | + |
| Malar hypoplasia (abnormal cheekbones) | + | + |
| flare Full Cheeks | + | + |
| Short Nose | + | + |
| Bulbous Nasal Tip | + | + |
| Long Philtrum | + | + |
| Prominent Lips | + | + |
| Small Jaw | + | + |
| Dental Abn/Malocclusion | 85 | + |
| CARDIOVASCULAR DEFFECTS | ||
| SVAS | 75 | + |
| PPS | 50 | + |
| VSD | 10 | - |
| Renal Artery Stenosis | + | + |
| Hypertension | 50 | no at infancy, yes at childhood |
| GENITOURINARY | ||
| Structural anomaly | ||
| Enuresis | ||
| Nephrocalcinosis | - | |
| Recurrent urinary tract infections | - | |
|
MUSCULOSKELETAL AND SUPPORTIVE
FEATURES | ||
| Joint hypermobility | 90 | - |
| Joint contractures | 50 | - |
| Radioulnar synostosis | - | |
| Long Neck or Sloped shoulders | + | |
| Joint limitation or laxity | - | |
| Rectal Prolapse | - | |
| Joint limitation | - | |
| Long trunk | + | |
| Hyperflexibility | + | |
| Abnormal Gait | - | |
| Preoccupation, spinning, rhythmic movements | - | |
| Hallux valgus | - | |
| Sacral Crease | - | |
| Frequent urination or delayed continence | - | |
| Strong attraction to music or perfect pitch | + | |
| Inguinal Hernia | 40/50 | - |
| OTHERS | ||
| Soft or velvetly skin | + | + |
| Hypercalcemia | 15 | - |
| Hypothyroidism | - | |
| Diatetes mellitus | - | |
| Strabismus | 50 | + |
| Esotropia | 50 | + |
| Hypersensitivity to sound | + | - |
| Hoarse Voice | + | + |
| Hyperacusis | 80 | - |
| Over friendly | + | - |
| Anxiety | + | - |
| Short attention span | + | - |
| Motor Delay | + | - |
| Language Delay | + | - |