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February 1993

Picture of the Month

Author Affiliations

From the Departments of Neonatology (Drs Argaman, Hammerman, Kaplan, and Schimmel) and Obstetrics/Gynecology (Dr Rabinovich), Shaare Zedek Medical Center, Jerusalem, Israel.

Am J Dis Child. 1993;147(2):205-206. doi:10.1001/archpedi.1993.02160260095031

Denouement and Discussion 

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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