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Keeling’s Fetal and Neonatal Pathology pp 767–787Cite as

Skeletal Muscle and Peripheral Nerves

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Abstract

Neuromuscular disorders in the fetus and neonate are rare and diverse with overlapping clinical features and genetic causes. Presentation typically is with contractures alone or with additional features such as hydrops, pulmonary hypoplasia, and cleft palate constituting the fetal akinesia syndrome. Neonates may also present with congenital hypotonia. These disorders include amyoplasia, spinal muscular atrophies, congenital myopathies, the congenital muscular dystrophies, congenital myasthenic syndromes, metabolic myopathies, and inherited peripheral neuropathies. A thorough, multidisciplinary approach is required to the diagnosis of these disorders and is described at the end of this chapter along with the approach to the perinatal neuromuscular autopsy.

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Authors and Affiliations

  1. Department of Anatomical Pathology, SA Pathology at the Women’s and Children’s Hospital, Adelaide, SA, Australia

    Nicholas D. Manton MBBS, BMedSci, FRCPA

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  1. Nicholas D. Manton MBBS, BMedSci, FRCPA
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Correspondence to Nicholas D. Manton MBBS, BMedSci, FRCPA .

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Editors and Affiliations

  1. Department of Pathology Department of Obstetrics and Gynaecology, University of Adelaide, North Adelaide, South Australia, Australia

    T. Yee Khong

  2. Department of Histopathology, Women’s & Children’s Hospital, North Adelaide, South Australia, Australia

    T. Yee Khong

  3. Department of Histopathology, University Hospitals of Leicester NHS Trust Leicester Royal Infirmary, Leicester, UK

    Roger D. G. Malcomson

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Manton, N.D. (2015). Skeletal Muscle and Peripheral Nerves. In: Khong, T.Y., Malcomson, R.D.G. (eds) Keeling’s Fetal and Neonatal Pathology. Springer, Cham. https://doi.org/10.1007/978-3-319-19207-9_30

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  • DOI: https://doi.org/10.1007/978-3-319-19207-9_30

  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-319-19206-2

  • Online ISBN: 978-3-319-19207-9

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