Clinical features of patients with 7q11.23 duplication compared to patients with Williams-Beuren Syndrome (WBS)
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Clinical features of patients with 7q11.23 duplication compared to patients with Williams-Beuren Syndrome (WBS)
| Patients with 7q11.23 duplication 1 | Patients with WBS | |||||
|---|---|---|---|---|---|---|
| Patient 1 | Patient 2 | Patient 3 | Patient 4 | Patient 5 | ||
| Reference | Somerville et al., 2005 | Kriek et al., 2006 | Kirchloff et al., 2006 | Torniero etal., 2007 | This study | |
| Language impairment | Severe | Moderate | Severe | Severe | Severe | Relatively spared language |
| Visuo-spatial skills | Good | NA | NA | Poor | Poor | Poor |
| Mental retardation | Mild | Mild | Severe | Moderate | Severe | Varies from mild to severe |
| Social skills and psychiatric features | Good social skills
Attention deficit-hyperactivity disorder |
NA | Poor social skills/Asperger syndrome suspected | Good social skills | Autism Hyperactivity, Aggressive behaviour | Good social skills (hypersociability)
Attention deficit disorder |
| Developmental delay | + | + (Mild) | + | + | + | + |
| Dysmorphic features | Mild: Retrognathia; Short philtrum; Dolichocephaly; High & narrow forehead; High & broad nose; High-arched palate; Dental malocclusion; Facial asymmetry | Mild: Mild aberrant skull shape | Mild: Low & broad forehead; Narrow palperal fissures; Protruding right ear with dysplastic lobe | Mild: Low-set ears with mild posterior rotation; Round face; Short philtrum; Thin lips; Asymmetric opening of the mouth; Stocky short neck | Mild: Retrognathia; Incomplete folding of the helix of both ears | Characteristic: “Elfin face”; Prominent lips, wide mouth, periorbital fullness, Short nose with bulbous nasal tip, Long philtrum Mild micrognathia Dental malformation |
| Neurological examination | Mild dysmetria and mild difficulty with tandem gait | NA | NA | Mild dysmetria with tandem gait and unipedal stance | Normal but walks awkwardly | Usually normal |
| Brain MRI | NA | NA | NA | Cortical dysplasia of the left temporal lobe | Mild dilatation of the left temporal horn | Parieto-occipital abnormalities |
| Perinatal hypotonia | + | NA | NA | − | + | + |
| Cardiac anomaly | None | None | None | None | None | Supravalvar aortic stenosis |
| Other features | Unspecified sleep disorder | Diagnosed with a trigonocephalic synostosis of the metopic ridge in the perinatal period | Talipes equino-varus and hip dysplasia at birth; dorsal kyphosis, truncal obesity, macrocephaly, astigmatism, diffuse hirsutism, stocky fingers, club feet; Intractable partial seizures
Abnormal EEG (sharp waves on the left temporal region) |
Hyperacusis
Hyperphagia Paroxystic episodes |
Hyperacusis; Infantile hypercalcemia; Common feeding difficulty; Short stature | |
| Familial history | Attention and academic difficulties in parents, ADHD in sister | Syndactyly (hand & feet) in the father and several other family members | NA | Healthy parents | Mother with possible obsessive-compulsive disorder | |
| Origin of the 7q11 duplication | De novo (Maternal origin) | Inherited from the father (absent from paternal grand-parents) | Absent from the mother, father unavailable | De novo (Maternal origin) | De novo (Paternal origin) | Mostly de novo |