Recurrence of spondylothoracic dysplasia (Jarcho-Levin syndrome) in a family

• Published in: Southern medical journal (Birmingham, Ala.) Vol. 90; no. 12; pp. 1234 - 1237
• Main Authors: BAUTISTA, D. B, KAHLSTROM, E. J, GOZAL, D
• Format: Journal Article
• Language: English
• Published: Hagerstown, MD Lippincott Williams & Wilkins 01-12-1997
• Subjects: 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; 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
• ISSN: 0038-4348; 1541-8243
• DOI: 10.1097/00007611-199712000-00014

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.