Difficulties in the prenatal diagnosis of Jarcho-Levin syndrome.
Prenatal diagnosis of Jarcho-Levin syndrome early in pregnancy has not been previously reported. We present a case in which ultrasound examination resulted in a tentative diagnosis at 22 weeks of pregnancy. The difficulties in arriving at a definite diagnosis are presented.
D000328:Adult; D005260:Female; D006630:Hispanic or Latino; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D011647:Puerto Rico / Q000208:ethnology; D012131:Respiratory Insufficiency / Q000175:diagnosis* / Q000208:ethnology / Q000235:genetics; D012272:Ribs / Q000002:abnormalities*; D013131:Spine / Q000002:abnormalities*; D013577:Syndrome