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Journal of Child Neurology
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Spinal Muscular Atrophy With Congenital Fractures: Postmortem Analysis

Ronald Van Toorn, FCP

Department of Pediatric Neurology

John Davies, FCPath

Department of Pathology

Jo M. Wilmshurst, FCP

Department of Pediatric Neurology Red Cross War Memorial Children's Hospital Cape Town, South Africa

We present a male infant with congenital fractures and features typical of spinal muscular atrophy. Mid-shaft fractures of the left humerus and both femurs occurred in utero. The patient died at 8 months of age following recurrent respiratory tract infections. His peripheral electrophysiologic studies were consistent with anterior horn cell disease. Molecular genetic studies were negative for the SMN gene. At autopsy, extensive anterior horn cell loss was present. There was extensive disease of skeletal muscle with relative sparing of the diaphragm. This patient represents a further case of this rare and fatal disease. (J Child Neurol 2002;17:721-723).

Journal of Child Neurology, Vol. 17, No. 9, 721-723 (2002)
DOI: 10.1177/088307380201700916
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This article has been cited by other articles:


Home page
 J Child NeurolHome page
E. Vaidla, I. Talvik, A. Kulla, H. Sibul, K. Maasalu, T. Metsvaht, A. Piirsoo, and T. Talvik
Neonatal Spinal Muscular Atrophy Type 1 With Bone Fractures and Heart Defect
J Child Neurol, January 1, 2007; 22(1): 67 - 70.
[Abstract] [PDF]


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