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 respir...
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| Published in | Prenatal diagnosis Vol. 7; no. 2; p. 129 |
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| Main Authors | , , , , |
| Format | Journal Article |
| Language | English |
| Published |
England
01.02.1987
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| Subjects | |
| Online Access | Get more information |
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| Abstract | 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. |
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| AbstractList | 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. |
| Author | Whittle, M J Gibson, A A McNay, M B Connor, J M Tolmie, J L |
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| Snippet | The Jarcho-Levin syndrome (spondylothoracic dysostosis) is a rare autosomal recessive disorder characterized by a short neck, short trunk and a constricted... |
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| SubjectTerms | Abnormalities, Multiple - diagnosis Abnormalities, Multiple - diagnostic imaging Female Fetal Diseases - diagnosis Fetal Diseases - diagnostic imaging Humans Infant, Newborn Male Pregnancy Pregnancy Trimester, Second Prenatal Diagnosis Radiography Ribs - abnormalities Ribs - diagnostic imaging Spinal Diseases - diagnosis Spinal Diseases - diagnostic imaging Spine - abnormalities Spine - diagnostic imaging Thoracic Diseases - diagnosis Thoracic Diseases - diagnostic imaging Ultrasonography |
| Title | Second trimester prenatal diagnosis of the Jarcho-Levin syndrome |
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