Congenital contractural arachnodactyly with neurogenic muscular atrophy: case report
Arq. neuropsiquiatr
;
59(2A): 259-262, June 2001. ilus
Article
in English
| LILACS
| ID: lil-288632
ABSTRACT
We report the case of a 3-1/2-year-old girl with hypotonia, multiple joint contractures, hip luxation, arachnodactyly, adducted thumbs, dolichostenomelia, and abnormal external ears suggesting the diagnosis of congenital contractural arachnodactyly (CCA). The serum muscle enzimes were normal and the needle electromyography showed active and chronic denervation. The muscle biopsy demonstrated active and chronic denervation compatible with spinal muscular atrophy. Analysis of exons 7 and 8 of survival motor neuron gene through polymerase chain reaction did not show deletions. Neurogenic muscular atrophy is a new abnormality associated with CCA, suggesting that CCA is clinically heterogeneous
Full text:
Available
Index:
LILACS (Americas)
Main subject:
Contracture
/
Marfan Syndrome
Limits:
Child, preschool
/
Female
/
Humans
Language:
English
Journal:
Arq. neuropsiquiatr
Journal subject:
Neurology
/
Psychiatry
Year:
2001
Type:
Article
Affiliation country:
Brazil
Institution/Affiliation country:
Universidade Federal do Paraná/BR
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