Congenital contractural arachnodactyly with neurogenic muscular atrophy: case report
Arq. neuropsiquiatr
;
59(2A): 259-262, June 2001. ilus
Artículo
en Inglés
| 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:
Disponible
Índice:
LILACS (Américas)
Asunto principal:
Contractura
/
Síndrome de Marfan
Límite:
Child, preschool
/
Femenino
/
Humanos
Idioma:
Inglés
Revista:
Arq. neuropsiquiatr
Asunto de la revista:
Neurología
/
Psiquiatria
Año:
2001
Tipo del documento:
Artículo
País de afiliación:
Brasil
Institución/País de afiliación:
Universidade Federal do Paraná/BR
Similares
MEDLINE
...
LILACS
LIS