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 restriction of pulmonary function and the determination of timely therapeutic intervention.
Bautista
D B
DB
Children's Hospital, Los Angeles, Department of Pediatrics, University of Southern California School of Medicine, USA.
Kahlstrom
E J
EJ
Gozal
D
D
D001827:Body Height; D004734:Energy Metabolism; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007738:Kyphosis / Q000150:complications / Q000151:congenital* / Q000235:genetics*; D008297:Male; D012129:Respiratory Function Tests; D012131:Respiratory Insufficiency / Q000209:etiology; D013123:Spinal Fusion; D013577:Syndrome; D013904:Thoracic Vertebrae / Q000601:surgery