Orstavik syndrome: comparison of our patients to published reports27
| Orstavik 1 | Orstavik 2 | Case 5 | Case 13 | |
|---|---|---|---|---|
| Gender | F | F | M | M |
| Age | 14 | <14 | 24 | 33 |
| Family history: | ||||
| Mental retardation | − | − | − | + |
| Seizures | − | − | − | − |
| Pregnancy | Term | Term | Term | Term |
| Weight at birth (g) | 3600 | 2660 | 3480 | N |
| OFC at birth (centile) | 36 cm (75) | 34 cm (25) | ? | ? |
| Developmental delay | + | + | + | + |
| Autism | + | + | + | + |
| Seizures | + | + | + | + |
| Coeliac disease | − | + | − | − |
| Dysmorphic features | ||||
| Macrocephaly | + | + | + | + |
| High, broad forehead | + | + | − | + |
| Deep set eyes | + | + | + | + |
| Short philtrum | + | + | + | + |
| Laboratory investigations | ||||
| EEG abnormalities | + | + | + | + |
| Neuroradiological abnormalities | N | N | ? | ? |
| Muscle biopsy | N | N | ? | ? |
| Spinal fluid (protein content and electrophoresis) | N | N | ? | ? |
| Urinary metabolic screening | N | N | N | N |
| Glutaryl CoA dehydrogenase | N | N | N | N |
| Karyotype | 46,XX | 46,XX | 46,XY | 46,XY |
| Molecular studies for fra(X) syndrome | N | N | N | N |