Congenital contractural arachnodactyly with neurogenic muscular atrophy: case report

Congenital contractural arachnodactyly with neurogenic muscular atrophy: case report

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...

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Bibliographic Details
Main Authors: Rosana Herminia Scola, Lineu Cesar Werneck, Fabio Massaiti Iwamoto, Letícia Cristine Ribas, Salmo Raskin, Ylmar Correa Neto
Format: Article
Language:English
Published: Thieme Revinter Publicações 2001-06-01
Series:Arquivos de Neuro-Psiquiatria
Subjects:
congenital contractural arachnodactyly
spinal muscular atrophy
motor neuron disease
survival motor neuron gene
Online Access:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2001000200022&tlng=en
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