A family history of achondroplasia should alert parents to the possibility of having an affected child.
Signs and tests:
Examination of the infant shows increased front-to-back head size (occipital-frontal circumference). There may be signs of hydrocephalus associated with enlargement of the chambers within the center of the brain (ventricular dilatation).
X-rays of the long bones can demonstrate achondroplasia in the newborn.
Review Date: 11/22/2004
Reviewed By: Benjamin D. Roye, M.D., M.P.H., Division of Pediatric Orthopaedics, Beth Israel Medical Center, New York, NY. Review provided by VeriMed Healthcare Network.
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