Recurrence of spondylothoracic dysplasia (Jarcho-Levin syndrome) in a family
We describe a rare occurrence of two consecutive cases of spondylothoracic dysplasia (Jarcho-Levin syndrome) in a nonconsanguineous Hispanic family. Serial measurements of pulmonary function and energy expenditure were useful in one of these infants for assessment of the evolution and severity of re...
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| Published in: | Southern medical journal (Birmingham, Ala.) Vol. 90; no. 12; pp. 1234 - 1237 |
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| Main Authors: | , , |
| Format: | Journal Article |
| Language: | English |
| Published: |
Hagerstown, MD
Lippincott Williams & Wilkins
01-12-1997
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| Online Access: | Get full text |
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| Abstract | We describe a rare occurrence of two consecutive cases of spondylothoracic dysplasia (Jarcho-Levin syndrome) in a nonconsanguineous Hispanic family. Serial measurements of pulmonary function and energy expenditure were useful in one of these infants for assessment of the evolution and severity of restriction of pulmonary function and the determination of timely therapeutic intervention. |
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| AbstractList | We describe a rare occurrence of two consecutive cases of spondylothoracic dysplasia (Jarcho-Levin syndrome) in a nonconsanguineous Hispanic family. Serial measurements of pulmonary function and energy expenditure were useful in one of these infants for assessment of the evolution and severity of restriction of pulmonary function and the determination of timely therapeutic intervention. |
| Author | GOZAL, D BAUTISTA, D. B KAHLSTROM, E. J |
| Author_xml | – sequence: 1 givenname: D. B surname: BAUTISTA fullname: BAUTISTA, D. B organization: Department of Pediatrics, University of Southern California School of Medicine, Los Angeles, United States – sequence: 2 givenname: E. J surname: KAHLSTROM fullname: KAHLSTROM, E. J organization: Department of Pediatrics, University of Southern California School of Medicine, Los Angeles, United States – sequence: 3 givenname: D surname: GOZAL fullname: GOZAL, D organization: Section of Pediatric Pulmonology, Department of Pediatrics, Tulane University School of Medicine, New Orleans, La, United States |
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| Keywords | Human Immunopathology Lung disease Recurrence Radiodiagnosis Respiratory disease Stomatology Diseases of the osteoarticular system Genetic determinism Genetic disease Case study Radiography Malformation Etiology Autosomal character Recessive character Complication Spanish Diagnosis Pulmonary ventilation Jarcho Levin syndrome Chest wall |
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| Snippet | We describe a rare occurrence of two consecutive cases of spondylothoracic dysplasia (Jarcho-Levin syndrome) in a nonconsanguineous Hispanic family. Serial... |
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| SubjectTerms | Biological and medical sciences Body Height Diseases of the osteoarticular system Energy Metabolism Fatal Outcome Female Humans Infant, Newborn Kyphosis - complications Kyphosis - congenital Kyphosis - genetics Male Malformations and congenital and or hereditary diseases involving bones. Joint deformations Medical sciences Respiratory Function Tests Respiratory Insufficiency - etiology Spinal Fusion Syndrome Thoracic Vertebrae - surgery |
| Title | Recurrence of spondylothoracic dysplasia (Jarcho-Levin syndrome) in a family |
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