Table 2.
Comparison of selected symptoms in "fetal benzodiazepine syndrome", Zellweger syndrome and peroxisomal beta-oxidation (multifunctional protein-2) deficiency.
| "benzodiazepine embryofetopathy" [48] | Zellweger syndrome [2] | MFP2 deficiency [9] | |
| hypotonia/floppy-baby syndrome | 100% (8/8) | 99% (94/95) | 98% (41/42) |
| epicanthic folds | 100% (8/8) | 92% (33/36) | present1 |
| feeding difficulties | 88% (7/8) | 96% (74/77) | 91% (10/11) |
| mental retardation | 86% (6/7) | 100% (45/45) | yes |
| short upturned nose with low nasal bridge | 75% (6/8) | 100% (23/23) | present |
| micrognathia | 63% (5/8) | 100% (18/18) | present |
| Highly arched palate | 50% (4/8) | 95% (35/37) | present |
| abnormal ears | 50% (4/8) | 98% (39/40) | present |
| high forehead | present | 97% (58/60) | present |
| neonatal seizures | no | 92% (56/61) | 95% (36/38) |
| neuronal migration defects | yes, in single case examined | yes, characteristic | 88% (15/17) |
1 79% (30/38) MFP2-deficient patients have a combination of dysmorphic features [9]. Numbers of affected and examined cases are indicated in parentheses.