Table 1.
Clinical findings in the 3 patients with WBS
| Clinical featuresa | Patient 1 | Patient 2 | Patient 3 |
|---|---|---|---|
| Age | 19 months | 13 years | 14 years |
| Sex | F | F | M |
| Facial features | |||
| Bitemporal narrowing | – | – | – |
| Epicanthal folds or flat nasal bridge | – | + | + |
| Short nose or anteversion of nares | + | – | – |
| Full cheeks | – | – | – |
| Long philtrum | + | – | – |
| Small, widely spaced teeth | – | – | – |
| Wide mouth | – | – | + |
| Prominent lobe | – | – | – |
| Broad brow | – | – | – |
| Periorbital fullness | – | + | + |
| Stellate lacy iris pattern | – | – | – |
| Bulbous or full nasal tip | + | – | + |
| Malar hypoplasia (flat cheek bone) | – | – | – |
| Full prominent lips | + (mild) | + | + |
| Small jaw | – | – | – |
| Cardiovascular | |||
| Supravalvular aortic stenosis | + | NS | NS |
| Cardiac murmur | + | – | – |
| Other | – | NS | NS |
| Development and cognition | |||
| Developmental delay | – | + | + |
| Delayed speech acquisition, followed by excessive talking | – | + | + |
| Weakness in visuospacial skills | – | – | + |
| Global cognitive impairment | – | + | + |
| Genitourinary | |||
| Delayed toilet training | NA | + | + |
| Voiding frequency, urgency, enuresis | NA | + | – |
| Other | – | – | – |
| Personality, behavior and emotional well-being | |||
| Friendly personality | NA | + | + |
| Anxiety and phobias, excessive-compulsive trait | – | + | – |
| Attention-deficit/hyperactivity disorder | NA | + | – |
| Skin and integument | |||
| Soft skin with mild premature aging | – | + | – |
NA = Not applicable; NS = not studied; + = present; – = absent.
a
Adapted from the AAP [Committee on Genetics, 2001] and Pober [2010].
Classical clinical features of WBS (auditory and ear, nose, and throat; dental; endocrine; gastrointestinal and weight-related; musculoskeletal; neurologic; and ophthalmologic) completely absent in the 3 patients of this study are not listed.