Anomalies of vertebrae and ribs: Jarcho Levin syndrome. Description of a case and literature review.
Jarcho Levin syndrome is a congenital disorder characterized by the presence of rib and vertebral defects at birth. This syndrome is usually diagnosed in newborns with short neck and trunk and short stature. They present multiple vertebral anomalies at different levels of the spine, including "butterfly vertebrae", hemivertebrae and fused hypoplastic vertebrae. The small size of the thorax in newborns frequently leads to respiratory compromise and death in infancy. We report a new case with short trunk and neck and vertebral and costal anomalies without respiratory problems. A literature review was conducted.
Vázquez-López
María E
ME
Department of Pediatrics, Hospital Xeral-Calde, Spain.
López-Conde
María I
MI
Somoza-Rubio
Carlos
C
Pérez-Pacín
Roberto
R
Morales-Redondo
Ramón
R
González-Gay
Miguel A
MA
D000015:Abnormalities, Multiple / Q000473:pathology*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D012131:Respiratory Insufficiency / Q000209:etiology / Q000473:pathology; D012272:Ribs / Q000002:abnormalities*; D013131:Spine / Q000002:abnormalities*; D013577:Syndrome