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Dianne N. Abuelo, MD; Owen Ehrlich, MD; Alan Schwartz, MD; Murray Feingold, MD
Am J Dis Child. 1983;137(10):1017-1018. doi:10.1001/archpedi.1983.02140360077021.
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Frontometaphyseal Dysplasia 

Manifestations  Frontometaphyseal dysplasia is an uncommon syndrome that consists of skeletal and dental anomalies, a distinctive facial appearance, and hearing loss.Affected patients appear normal at birth, but gradually abnormal facial features develop during early childhood. The most characteristic abnormality is enlargement and thickening of the supraorbital areas. The chin may be small and/or pointed. Dental anomalies can be extensive, involving delayed eruption, missing permanent teeth, and retained deciduous teeth. Height and weight are generally normal, although the patients have an unusual habitus with a mildly shortened trunk and long thin upper limbs and fingers. There may be flexion deformities of the elbows, hands, and feet that tend to progress. Hearing loss is of a mixed conductive and sensorineural type and is also progressive. Other skeletal problems include chest cage deformities, winging of the scapulae, abnormalities of the cervical

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