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Picture of the Month

Sydney S. Gellis, MD; Murray Feingold, MD; Marilyn J. Bull, MD; Anthony Policastro, MD
Am J Dis Child. 1976;130(5):513-514. doi:10.1001/archpedi.1976.02120060059011.
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Denouement and Discussion 

Spondylothoracic Dysplasia 

(Costovertebral Dysplasia, Jarcho-Levin Syndrome) 

Manifestations  Major manifestations involve the vertebrae and include block vertebrae, hemivertebrae, spina bifida, and butterfly-shaped vertebrae. These anomalies result in a short-trunk form of dwarfism, a prominent thorax, and thoracolumbar lordosis. Rib anomalies consist primarily of incomplete segmentation with decreased number and fusion of the ribs posteriorly, resulting in a "crab-like" appearance on the chest roentgenogram. The neck is short, and there may be a prominent occiput with a low posterior hairline. The facial appearance typically consists of a broad forehead, wide nasal bridge, prominent philtrum, anteverted nares, inverted V-shaped mouth, and a mongoloid slant of the eyes. The abdomen is protuberant with poor muscle tone resulting in abdominal wall hernias, usually present in the left upper quadrant, which may improve with age. Hand and foot abnormalities consist of long, tapered fingers and toes,

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