Table 1.
Clinical Features of the Two Patients
|
Observation in Patient |
||
| Features | 1 (Older Sibling) | 2 (Younger Sibling) |
| Term of gestation | 40 | 38 |
| Birth weight (g) | 2,780 (−1 SD) | 2,550 (−1.5 SD) |
| Length at birth (cm) | 47 (−1.5 SD) | 47 (−1.6 SD) |
| Receding forehead | + | + |
| Upslanted palpebral fissures | + | + |
| Small upper lips | + | + |
| Occipitofrontal circumference (cm) | 28.5 (−3.5 SD) | 27 (−4 SD) |
| Age at first examination (years) | 4 | 2.25 |
| Weight (g) | 11,000 (+.8 SD) | 6,300 (−3.8 SD) |
| Height (cm) | 87 (−5 SD) | 69 (−5 SD) |
| Occipitofrontal circumference (cm) | 37 (−10 SD) | 33 (−12 SD) |
| Age at second examination (years) | 7 | 5 |
| Weight (g) | 22,000 (−.8 SD) | 10,000 (−1.5 SD) |
| Height (cm) | 110 (−5 SD) | 85 (−5.7 SD) |
| Occipitofrontal circumference (cm) | 40.4 (−8 SD) | 37.8 (−10 SD) |
| Renal agenesia (unilateral) | − | 704 |
| Vesicoureterical reflux (degree III to IV; unilateral) | − | + |
| Age at sitting | 8 mo | 3 years |
| Age at unsupported walking | 15 mo | 4.75 years |
| Hyperreflexia of patellar and Achilles tendon reflexes | − | + |
| Cloni | − | + |
| Expressive language (single words) | 2 years | 4 years |
| Understanding of language | + | + |
| Cerebral MRI findings:a | ||
| Pachygyria | + | 11 |
| Frontal lobe hypoplasia | + | − |
| Agenesis of the genu of corpus callosum | + | − |
| Nodular neuronal heterotopia | Ventricular | Infratentorial and subependymal in both horns of side ventricles |
| Slight retardation of myelinization | Of cerebral medullary layer | − |
| Dilatation of side ventricles | − | Dorsal and temporal |
| Dilated external liquor space | − | + |
a
At age 3 mo for patient 1 and age 2 years for patient 2.