Congenital contractural arachnodactyly with neurogenic muscular atrophy: case report
Arq. neuropsiquiatr
;
59(2A): 259-262, June 2001. ilus
Artigo
em Inglês
| 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
Texto completo:
DisponíveL
Índice:
LILACS (Américas)
Assunto principal:
Contratura
/
Síndrome de Marfan
Limite:
Criança, pré-escolar
/
Feminino
/
Humanos
Idioma:
Inglês
Revista:
Arq. neuropsiquiatr
Assunto da revista:
Neurologia
/
Psiquiatria
Ano de publicação:
2001
Tipo de documento:
Artigo
País de afiliação:
Brasil
Instituição/País de afiliação:
Universidade Federal do Paraná/BR
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