The role of ultrasound in fetal congenital myopathy detection: a novel case of fetal‐onset cap myopathy. (21st July 2013)

• Record Type: Journal Article
• Authors: Tamblyn, J. A.; Morris, R. K.; Cox, P.; Hargitai, B.; Kilby, M. D.
• Is Part Of: Prenatal diagnosis. Volume 33:Number 11(2013:Nov.)
• Page Start: 1102
• Page End: 1104
• Publication Date: 2013-07-21
• Subjects: Prenatal diagnosis -- Periodicals; Fetus -- Diseases -- Diagnosis -- Periodicals; Electronic journals; 618.32075
• DOI: 10.1002/pd.4184
• Languages: English
• ISSNs: 0197-3851

Abstract

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.