Foramen magnum decompression in an infant with homozygous achondroplasia

Case report

Nathan Moskowitz M.D., Ph.D.1, Benjamin Carson M.D.1, Steven Kopits M.D.1, Roy Levitt M.D.1, and Graeme Hart M.B.,B.S., F.F.A.R.A.C.S.1
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  • 1 Departments of Neurosurgery, Orthopedics, and Anesthesiology, Johns Hopkins Hospital and Johns Hopkins School of Medicine, Baltimore, Maryland
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✓ Homozygous achondroplasia is a rare yet distinct clinical entity. Most infants succumb to an early death as a result of respiratory compromise due to upper airway obstruction, thoracic cage deformity, and/or cervicomedullary compression. The successful cervicomedullary decompression of a 16-week-old infant with homozygous achondroplasia is described. This report suggests that homozygous achondroplasia is not universally fatal and that these infants are potentially viable if managed by aggressive respiratory and surgical measures.

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