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 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.

Bibliographic Details

Main Authors:	Scola,Rosana Herminia, Werneck,Lineu Cesar, Iwamoto,Fabio Massaiti, Ribas,Letícia Cristine, Raskin,Salmo, Correa Neto,Ylmar
Format:	Digital revista
Language:	English
Published:	Academia Brasileira de Neurologia - ABNEURO 2001
Online Access:	http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2001000200022
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