Trisomy 21 in a second trimester male hydropic fetus with "Noonan-syndrome-phenotype": nuchal and thoracic lymphangiomatosis, oedema of the dorsum of hands and feet, and bicuspid pulmonary valve.
Fryns
J P
JP
Moerman
P
P
D001848:Bone Diseases, Developmental / Q000175:diagnosis / Q000235:genetics; D004314:Down Syndrome / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D005313:Fetal Death / Q000235:genetics*; D005532:Foot Deformities, Congenital / Q000175:diagnosis / Q000235:genetics; D005817:Genetic Counseling; D006228:Hand Deformities, Congenital / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008202:Lymphangioma / Q000175:diagnosis / Q000235:genetics*; D008209:Lymphedema / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D009333:Neck / Q000002:abnormalities; D009634:Noonan Syndrome / Q000175:diagnosis / Q000235:genetics*; D010641:Phenotype; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D011664:Pulmonary Valve / Q000002:abnormalities*