Pediatrics in Review
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(Pediatrics in Review. 2009;30:114-115. doi:10.1542/10.1542/pir.30-3-114)
© 2009 American Academy of Pediatrics
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In Brief

Achondroplasia

The first 20% of the full text of this article appears below.

Health Supervision for Children With Achondroplasia. American Academy of Pediatrics: Clinical Report. Pediatrics. 2005;116 :771 –783[Abstract/Free Full Text]

Achondroplasia. Horton WA, Hall JG, Hecht JT. Lancet. 2007;370 :162 –172[CrossRef][Medline]

Mortality in Achondroplasia Study: A 42-Year Follow-Up. Wynn J, King TM, Gambello MJ, et al. Am J Med Genet. 2007;143A :2502 –2511

Weight for Age Charts for Children with Achondroplasia. Hoover-Fong JE, McGready J, Schulze KJ, et al. Am J Med Genet. 2007;143A :2227 –2235

Achondroplasia is the most common of the skeletal dysplasias and the most common condition associated with disproportionate short stature. The incidence is 1 in 10,000 to 1 in 30,000 live births, with more than 250,000 people affected worldwide. The disorder is transmitted as an autosomal dominant trait with complete penetrance. However, in more than 75% of affected infants, achondroplasia results from a new mutation. The genetic defect in more than 95% of cases is an arginine-for-glycine substitution in amino acid 380 in the gene, mapped to band 4p16.3, that codes . . . [Full Text of this Article]


William B. Stratbucker, MD, MS
 Helen DeVos Children's Hospital
Michigan State University
Grand Rapids, Mich

Janet R. Serwint, MD, Consulting Editor
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