DOI: 10.1177/088307380201700915. Severe Spinal Muscular Atrophy Variant Associated With Congenital Bone Fractures

Severe Spinal Muscular Atrophy Variant Associated With Congenital Bone Fractures

10.1177/088307380201700915

Crossref journal-article

SAGE Publications

Journal of Child Neurology (179)

Abstract

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).

Bibliography

Felderhoff-Mueser, U., Grohmann, K., Harder, A., Stadelmann, C., Zerres, K., BÃ¼hrer, C., & Obladen, M. (2002). Severe Spinal Muscular Atrophy Variant Associated With Congenital Bone Fractures. Journal of Child Neurology, 17(9), 718â721.

Authors 7

Ursula Felderhoff-Mueser (first)
Katja Grohmann (additional)
Anja Harder (additional)
Christine Stadelmann (additional)
Klaus Zerres (additional)
Christoph Bührer (additional)
Michael Obladen (additional)

References 18 Referenced 34

10.1159/000026221
10.1038/344540a0
10.1038/344767a0
10.1016/S0887-8994(00)00166-1
10.1038/ng703
10.1016/S0960-8966(99)00016-4 / Neuromuscul Disord by Zerres K. (1999)
10.1136/jmg.28.5.345
10.1002/(SICI)1096-8628(19991105)87:1<65::AID-AJMG13>3.0.CO;2-5
10.1055/s-2007-973741
10.1172/JCI118895
10.1212/WNL.49.3.848
{'key': 'atypb12', 'first-page': '282', 'volume': '29', 'author': 'Lunt PW', 'year': '1992', 'journal-title': 'Med Genet'} / Med Genet by Lunt PW (1992)
{'key': 'atypb13', 'first-page': '217', 'volume': '142', 'author': 'Greenberg F.', 'year': '1988', 'journal-title': 'Am J Dis Child'} / Am J Dis Child by Greenberg F. (1988)
10.1093/hmg/4.7.1213
10.1136/jnnp.48.10.1037
10.1002/mus.880170210
10.1038/sj.ejhg.5200229
10.1136/jmg.39.1.74

Dates

Type	When
Created	17 years, 4 months ago (March 31, 2008, 6:40 p.m.)
Deposited	5 months, 3 weeks ago (March 2, 2025, 8:28 p.m.)
Indexed	1 month ago (July 20, 2025, 6:47 p.m.)
Issued	22 years, 11 months ago (Sept. 1, 2002)
Published	22 years, 11 months ago (Sept. 1, 2002)
Published Online	22 years, 11 months ago (Sept. 1, 2002)
Published Print	22 years, 11 months ago (Sept. 1, 2002)

Funders 0

None

BibTeX

@article{Felderhoff_Mueser_2002, title={Severe Spinal Muscular Atrophy Variant Associated With Congenital Bone Fractures}, volume={17}, ISSN={1708-8283}, url={http://dx.doi.org/10.1177/088307380201700915}, DOI={10.1177/088307380201700915}, number={9}, journal={Journal of Child Neurology}, publisher={SAGE Publications}, author={Felderhoff-Mueser, Ursula and Grohmann, Katja and Harder, Anja and Stadelmann, Christine and Zerres, Klaus and Bührer, Christoph and Obladen, Michael}, year={2002}, month=sep, pages={718–721} }

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