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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Bibliographic Details
Published inPrenatal diagnosis Vol. 7; no. 2; p. 129
Main Authors Tolmie, J L, Whittle, M J, McNay, M B, Gibson, A A, Connor, J M
Format Journal Article
LanguageEnglish
Published England 01.02.1987
Subjects
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
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Summary: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.
ISSN:0197-3851
DOI:10.1002/pd.1970070209