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. 2004 Mar 12;4:5. doi: 10.1186/1471-2431-4-5

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.