Second trimester prenatal diagnosis of the Jarcho-Levin syndrome.
The Jarcho-Levin syndrome (spondylothoracic dysostosis) is a rare autosomal recessive disorder characterized by a short neck, short trunk and a constricted thorax due to multiple rib and vertebral defects; other visceral malformations are occasionally present. Most cases die in infancy due to respiratory failure. In this report we describe two cases in one family from the United Kingdom. Prenatal diagnosis by ultrasound examination during the second trimester was successfully accomplished in the second case.
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000000981:diagnostic imaging; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis / Q000000981:diagnostic imaging; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D011296:Prenatal Diagnosis; D011859:Radiography; D012272:Ribs / Q000002:abnormalities* / Q000000981:diagnostic imaging; D013122:Spinal Diseases / Q000175:diagnosis* / Q000000981:diagnostic imaging; D013131:Spine / Q000002:abnormalities* / Q000000981:diagnostic imaging; D013896:Thoracic Diseases / Q000175:diagnosis / Q000000981:diagnostic imaging; D014463:Ultrasonography