Premium
The role of ultrasound in fetal congenital myopathy detection: a novel case of fetal‐onset cap myopathy
Author(s) -
Tamblyn J. A.,
Morris R. K.,
Cox P.,
Hargitai B.,
Kilby M. D.
Publication year - 2013
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.4184
Subject(s) - myopathy , fetus , medicine , prenatal diagnosis , ultrasound , congenital myopathy , prenatal ultrasound , pediatrics , pathology , pregnancy , radiology , biology , genetics , biopsy , muscle biopsy
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 detectionWhat 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.