Table 2 |
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|
Comparison of selected symptoms in "fetal benzodiazepine syndrome", Zellweger syndrome and peroxisomal beta-oxidation (multifunctional protein-2) deficiency. |
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|
"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) |
|
|
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|
1 79% (30/38) MFP2-deficient patients have a combination of dysmorphic features [9]. Numbers of affected and examined cases are indicated in parentheses. |
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|
Breitling BMC Pediatrics 2004 4:5 doi:10.1186/1471-2431-4-5 |
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