Table 1.
Clinical features of affected family members
| Case | Sex | Age | Height, cm (percentile) | OFC, cm (percentile) | Facial dysmorphism | Neuropsychiatric abnormalities | Cardiovascular abnormalities |
|---|---|---|---|---|---|---|---|
| III-1 | F | 63 | 171 (50) | 58.0 (90 – 95) | hypertelorism, narrow upslanted palpebral fissures, thin lips (fig. 2c) | no | not tested |
| III-2 | F | 60 | 180 (90 – 95) | 59.0 (>95) | hypertelorism, hooded upper eyelids, thin lips (fig. 2b) | no | not tested |
| III-3 | M | 61 | 198 (>95) | 62.0 (>95) | hypertelorism, upslanted palpebral fissures, thin lips (fig. 2d) | no | echocardiogram |
| normal | |||||||
| III-4 | F | 56 | 182 (90 – 95) | 58.1 (90 – 95) | hypertelorism, hooded upper eyelids, thin lips (fig. 2e) | no | not tested |
| III-5 | F | 55 | 183 (>95) | 61.0 (>95) | hypertelorism, upslanted palpebral fissures (fig. 2f) | no | echocardiogram |
| normal | |||||||
| III-6 | M | 50 | 185 (50 – 75) | 59.8 (75 – 90) | hypertelorism (no picture) | no | carotid artery stenosis |
| III-7 | M | 48 | 193 (90) | 61.8 (>95) | hypertelorism, square face (fig. 2g) | depression | not tested |
| IV-1 | F | 32 | 181 (90 – 95) | 56.5 (75) | hypertelorism, square face, hooded upper eyelids, thin lips (fig. 2a) | depression, anxiety, learning disability | echocardiogram |
| normal | |||||||
| IV-4 | F | 32 | 180 (90 – 95) | 59.5 (>95) | hypertelorism (fig. 2h) | no | not tested |
| IV-5 | F | 30 | 168 (25 – 50) | 58.4 (90 – 95) | hypertelorism (no picture) | no | not tested |
| V-1 | M | TOP | 32.5 (75 – 90) | 23 (>95) | hypertelorism, square face, wide mouth, thin lips (fig. 3a) | NA | cardiomyopathy, absent pulmonary valve |
NA = Not applicable; OFC = occipitofrontal circumference; TOP = termination of pregnancy.