Abstract
Marden-Walker syndrome present in the neonatal period is characterized by oculo-facial abnormalities, congenital myopathy, and contractures. A newborn infant with a similar pattern of anomalies is reported, and further evidence for autosomal recessive inheritance as well as new neuropathological findings are included.
Original language | English |
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Pages (from-to) | 377-379 |
Number of pages | 3 |
Journal | American Journal of Medical Genetics |
Volume | 39 |
Issue number | 4 |
DOIs | |
State | Published - 1991 |
Externally published | Yes |
Keywords
- Marden-Walker Syndrome
- blepharophimosis
- contractures
- myopathy