title: Congenital contractural arachnodactyly with neurogenic muscular atrophy: case report.
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 enzymes 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.
authors.affiliation: Serviços de Neurologia e Doenças Neuromusculares e Disciplina de Propedêutica Médica, Departamento de Clínica Médica, Hospital de Clínicas, Universidade Federal do Paraná. scola@hc.ufpr.br
authors.forename: R H
authors.initials: RH
authors.lastname: Scola
authors.forename: L C
authors.initials: LC
authors.lastname: Werneck
authors.forename: F M
authors.initials: FM
authors.lastname: Iwamoto
authors.forename: L C
authors.initials: LC
authors.lastname: Ribas
authors.forename: S
authors.initials: S
authors.lastname: Raskin
authors.forename: Y
authors.initials: Y
authors.lastname: Correa Neto
mesh_terms: D002675:Child, Preschool; D003286:Contracture / Q000150:complications / Q000151:congenital*; D005091:Exons; D005260:Female; D006801:Humans; D008382:Marfan Syndrome / Q000150:complications / Q000235:genetics*; D009133:Muscular Atrophy / Q000150:complications / Q000151:congenital / Q000473:pathology