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  • Title: A new skeletal dysplasia syndrome with dwarfism, craniofacial anomalies, and unique radiographic findings.
    Author: Jones KL, Jones KL, Miller K.
    Journal: Am J Med Genet; 1986 Mar; 23(3):751-7. PubMed ID: 2420178.
    Abstract:
    We report on a boy from a consanguinous marriage who has a unique skeletal dysplasia, marked dwarfism, mild developmental delay, eye abnormalities, and cranofacial and skeletal changes that have not been described previously.
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