Table 1 Clinical features of the 9 affected patients belonging to the four studied families: F1, F2, F3 and F4.
Familles | F1 | F2 | F3 | F4 | |||||
|---|---|---|---|---|---|---|---|---|---|
Patients | IV13 | IV16 | IV35 | IV36 | IV37 | IV10 | IV11 | IV11 | IV12 |
Weigt (Kg) | N | N | N | N | N | N | N | N | N |
Height (cm) | N | N | N | N | N | N | N | N | N |
Cataract | unilateral | bilateral | bilateral | bilateral | bilateral | bilateral | bilateral | unilateral | bilateral |
Age of cataract | 3 years | 3 years | 2 years | 3 years | 2 years | 6 months | 1 year | 3 years | 3 years |
Microcephaly | -5.5 DS | -6.7 DS | -2.8 DS | N | N | -3.5 DS | -3 DS | -5.6 DS | -3.8 DS |
MR | moderate | moderate | moderate | moderate | mild | moderate | moderate | moderate | moderate |
Age of MR | 3 years | 3 years | 2 years | 3 years | 2 years | 1 year | 3 years | 3 years | 3 years |
Developmental delay | -Could not learn nor write. -Troubles of eloculation -Running all alone. | -Walked at age of 2 years. -Difficult to shake hands and close eyes. | -Walked at 2 years. -Spoke at 5 years. -Absence of anatomy. | Difficult to learn. | -Spoke at 2 years. -Speech with monosyllabic words. | Walked and spoke at ages of 2 years. | |||
IV10 -Sit with supports since 5 months. IV 10 -Walk with assistance gained. | |||||||||
MRI | N | Small parietal ischemic lesion | N | N | N | -Anomaly if Dandy-Walker. -Thinning of corpus callosum. | N | N | |
Others | Slight axial hypotonia | -Retinal dystrophy -Strabismus | - | . - | - | -Microphtalmia. -Axial hypotonia. -Intrauterine growth retardation. IV10- Bilateral cryptorchidism operated. | - | -Alteration of the pigment epithelium. -Leucorea -Decreased visual acuity. | |