This Article Full Text (PDF) References Alert me when this article is cited Alert me if a correction is posted Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Add to Saved Citations Download to citation manager Request Permissions Request Reprints Add to My Marked Citations Citing Articles Citing Articles via HighWire Citing Articles via Google Scholar Citing Articles via Scopus Google Scholar Articles by Felderhoff-Mueser, U. Articles by Obladen, M. Search for Related Content PubMed PubMed Citation Articles by Felderhoff-Mueser, U. Articles by Obladen, M. Social Bookmarking                         What's this?

Severe Spinal Muscular Atrophy Variant Associated With Congenital Bone Fractures

Department of Neonatology Charité, Campus Virchow Klinikum Humboldt University Berlin, Germany

Katja Grohmann, MD

Department of Pediatric Neurology Charité, Campus Virchow Klinikum Humboldt University Berlin, Germany

Anja Harder, MD

Institute of Neuropathology Charité, Campus Virchow Klinikum Humboldt University Berlin, Germany

Christine Stadelmann, MD

Institute of Neuropathology Charité, Campus Virchow Klinikum Humboldt University Berlin, Germany

Klaus Zerres, MD

Institute for Human Genetics Aachen University of Technology Aachen, Germany

Christoph Bührer, MD

Department of Neonatology, Charité, Campus Virchow Klinikum Humboldt University Berlin, Germany

Michael Obladen, MD

Department of Neonatology, Charité, Campus Virchow Klinikum Humboldt University Berlin, Germany

Infantile autosomal recessive spinal muscular atrophy (type I) represents a lethal disorder leading to progressive symmetric muscular atrophy of limb and trunk muscles. Ninety-six percent cases of spinal muscular atrophy type I are caused by deletions or mutations in the survival motoneuron gene (SMN1) on chromosome 5q11.2-13.3. However, a number of chromosome 5q-negative patients with additional clinical features (respiratory distress, cerebellar hypoplasia) have been designated in the literature as infantile spinal muscular atrophy plus forms. In addition, the combination of severe spinal muscular atrophy and neurogenic arthrogryposis has been described. We present clinical, molecular, and autopsy findings of a newborn boy presenting with generalized muscular atrophy in combination with congenital bone fractures and extremely thin ribs but without contractures. (J Child Neurol 2002;17:718-721).

Journal of Child Neurology, Vol. 17, No. 9, 718-721 (2002)
DOI: 10.1177/088307380201700915


CiteULike    Complore    Connotea    Del.icio.us    Digg    Reddit    Technorati    Twitter    What's this?

This article has been cited by other articles:

				S. Shanmugarajan, K. J. Swoboda, S. T. Iannaccone, W. L. Ries, B. L. Maria, and S. V. Reddy Congenital Bone Fractures in Spinal Muscular Atrophy: Functional Role for SMN Protein in Bone Remodeling J Child Neurol, August 1, 2007; 22(8): 967 - 973. [Abstract] [PDF]

				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]