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Clinical criteria in differential diagnosis of Congenital Cataracts Facial Dysmorphism Neuropathy (CCFDN) and Marinesco-Sjögren syndrome (MSS) |
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| SYMPTOMS |
CCFDN |
MSS |
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|
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| Microcornea, microphthalmos, micropupils |
Yes |
No |
| Developmental delay |
Yes |
Yes |
| Small stature |
Yes |
Yes |
| Facial dysmorphism |
Yes, mild, late childhood |
No |
| Peripheral neuropathy |
Yes, hypomyelinating |
Rare, variable type |
| Ataxia |
Rare, mild* |
Severe cerebellar |
| Brain MRI |
Cerebral atrophy* |
Cerebellar atrophy |
| Myopathy |
Acute para-infectious rhabdomyolysis* |
Chronic |
| Cognitive deficit |
Mild* |
Variable degree |
| Hypogonadism |
Mild* |
Variable in degree and origin (hypo/hypergonadotrophic) |
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* Manifestations whose frequency and nature require further characterisation. | ||
Kalaydjieva Orphanet Journal of Rare Diseases 2006 1:32 doi:10.1186/1750-1172-1-32 |
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