SEVERE THORACIC DYSTROPHY WITH STRIKING MICROMELIA, ABNORMAL OSSEOUS DEVELOPMENT, INCLUDING THE SPINE, AND MULTIPLE VISCERAL ANOMALIES

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Abstract
Two stillborn female siblings with severe micromelic dwarfism, marked thoracic dystrophy, and gross, generalized osseous dysplasia are described. Multiple internal anomalies including anorectal anomalies, congenital heart disease, and pulmonary hypoplasia were present. This pattern of maldevelopment has not been reported previously. Some of the features were similar to those of the Ellis-van Creveld syndrome and the ATD syndrome described by Jeune et al. Additional clinical and roentgenographic features, however, suggest that these siblings may have manifested a new and distinct malformation syndrome.

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