The role of ultrasound in fetal congenital myopathy detection: a novel case of fetal-onset cap myopathy

J A Tamblyn, Katie Morris, P Cox, B Hargitai, M D Kilby

Research output: Contribution to journalArticlepeer-review

1 Citation (Scopus)

Abstract

What's already known about this topic?

Rare heterogeneous group of neuromuscular disorders.
Associated with severe, often fatal phenotypes – Prenatal parental counselling and ‘high risk screening’ important
Prenatal diagnosis primarily reliant upon ultrasound detection
What does this study add?

Introduces a novel, lethal fetal form of cap myopathy.
Evaluates range of ultrasound features and how detection can be facilitated
Reconfirms fetal-onset CM represents important, complex diagnostic challenge
Original languageEnglish
Pages (from-to)1102-4
Number of pages3
JournalPrenatal Diagnosis
Volume33
Issue number11
DOIs
Publication statusPublished - Nov 2013

Keywords

  • Abortion, Eugenic
  • Adult
  • Female
  • Fetal Diseases
  • Humans
  • Muscular Diseases
  • Myopathies, Structural, Congenital
  • Pregnancy
  • Pregnancy Trimester, Second
  • Pregnancy Trimester, Third
  • Ultrasonography, Prenatal

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