A premature infant with fetal myocardial and abdominal calcifications and factor V Leiden homozygosity.
We present a premature male neonate with confirmed factor V Leiden deficiency diagnosed prenatally with cardiac and abdominal calcifications. Our patient's findings suggest that clinicians consider thromboembolic conditions when multiple fetal calcifications are visualized.
Parker
M G K
MG
Harvard Combined Neonatal-Perinatal Fellowship Training Program, Division of Newborn Medicine, Children's Hospital Boston, Boston, MA, USA.
Webster
G
G
Insoft
R M
RM
D000037:Abruptio Placentae / Q000000981:diagnostic imaging / Q000235:genetics; D000328:Adult; D002114:Calcinosis / Q000000981:diagnostic imaging / Q000235:genetics*; D009202:Cardiomyopathies / Q000000981:diagnostic imaging / Q000235:genetics*; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D003964:Diaphragm / Q000000981:diagnostic imaging; D004452:Echocardiography; D005165:Factor V / Q000235:genetics*; D005166:Factor V Deficiency / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D005838:Genotype; D006352:Heart Ventricles / Q000000981:diagnostic imaging; D006720:Homozygote; D006801:Humans; D007231:Infant, Newborn; D007235:Infant, Premature, Diseases / Q000000981:diagnostic imaging / Q000235:genetics*; D008107:Liver Diseases / Q000000981:diagnostic imaging / Q000235:genetics*; D008297:Male; D010922:Placenta Diseases / Q000000981:diagnostic imaging / Q000235:genetics; D011247:Pregnancy; D013923:Thromboembolism / Q000000981:diagnostic imaging / Q000235:genetics; D016216:Ultrasonography, Prenatal
C095381:factor V Leiden; D005165:Factor V