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Z. Argaman, MD; C. A. Hammerman, MD; M. Kaplan, MBChB; M. Schimmel, MD; R. Rabinovich, MD; Walter W. Tunnessen Jr
Am J Dis Child. 1993;147(2):205-206. doi:10.1001/archpedi.1993.02160260095031.
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Campomelic Dysplasia 

Manifestations  Campomelic dysplasia is a rare form of congenital short-limbed dwarfism classically characterized by campomelia (bowing of the long bones of the lower extremities) in association with a posterior cleft palate, flattened facies, and hypoplastic scapulae.1 This constellation of anomalies was first fully described by Maroteaux et al in 1971.2Infants affected with campomelic dysplasia have extreme hypotonia at birth in addition to low-normal birth weight, macrocephaly (mean occipitofrontal circumference of 37 cm), and disproportionately short trunks and lower limbs. Characteristic facial features include flattening and a high forehead. The nasal bridge also is flattened, and the


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