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Sydney S. Gellis, MD; Murray Feingold, MD; Giancarlo Polidori, MD; Pierpaolo Mastroiacovo; Luigi Cataldi; Giuseppe Segni
Am J Dis Child. 1975;129(5):615-616. doi:10.1001/archpedi.1975.02120420053017.
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Denouement and Discussion 

Campomelic Syndrome 

Manifestations  Major manifestations are dwarfism, craniofacial anomalies, bowing of the tibiae and femora with cutaneous dimpling overlying the area of bowing, respiratory distress, failure to thrive, and early death. Although the syndrome is rare, an increasing number of patients have been reported during the past few years. The term "campomelic" (from the Greek kamptos [bent] and melos [extremity]) is used to describe the syndrome. Craniofacial abnormalities include macrocephaly with a prominent occiput, flat facies, ocular hypertelorism, broad bridge of the nose, micrognathia, low-set ears, and a higharched or cleft palate. In the past, some of these patients were described as having the Pierre Robin anomaly associated with skeletal defects. Severe respiratory distress, failure to thrive, recurrent aspiration especially during feeding, laryngotracheomalacia, and opisthotonic positioning are frequently present. Skeletal abnormalities other than the congenital bowing include a narrowed thorax, scoliosis


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