Journal of Pediatric Orthopaedics B · 1999 · 10 citations · 0 references
Life SciencesGeneticsAnatomic PathologyHuman GeneticsMedical GeneticsGenetic DisordersGenetic SyndromesSpine DisordersCongenital Rib AnomaliesCongenital Skeletal DisordersRib AnatomyRib Fusion AnomaliesShort Stature GeneticsThoracic Cage AbnormalitiesThoracic Cage Anatomy
Jarcho-Levin syndrome is a genetically transmitted rare entity characterized by multiple vertebral and rib anomalies. The multilevel skeletal involvement causes short stature, neck and thoracic cage deformities, and restrictive lung disease that is usually the cause of early death. The authors describe a 33-year follow-up of a patient with this syndrome who represents, to their best knowledge, the longest survival of a patient with this entity.