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American Academy of Pediatrics
In Briefs

Achondroplasia

Elaine Pereira
Pediatrics in Review June 2019, 40 (6) 316-318; DOI: https://doi.org/10.1542/pir.2018-0009
Elaine Pereira
*NewYork-Presbyterian Morgan Stanley Children’s Hospital, Columbia University Medical Center, New York, NY
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  • Correction - August 01, 2019

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  1. Elaine Pereira, MD*
  1. *NewYork-Presbyterian Morgan Stanley Children’s Hospital, Columbia University Medical Center, New York, NY
  • AUTHOR DISCLOSURE

    Dr Pereira has disclosed no financial relationships relevant to this article. This commentary does not contain a discussion of an unapproved/investigative use of a commercial product/device.

Achondroplasia is one of the most common and recognized short-limbed skeletal dysplasias, with a prevalence of 1 in 26,000 to 28,000 live births. Although achondroplasia is inherited in an autosomal dominant manner, 80% of affected children have a de novo mutation. The FGFR3 gene is the only gene associated with achondroplasia. Two mutations in this gene account for 99% of cases; both result in an amino acid change (glycine to arginine), which results in continuous activation of the FGFR3 protein. Having a constantly active FGFR3 protein leads to the inhibition of chondrocyte proliferation, which, in turn, inhibits bone growth. The average adult height for patients with achondroplasia is 131 cm for a man and 124 cm for a woman.

Achondroplasia should be considered prenatally if shortened long bones (usually <5th percentile) are noted on third trimester ultrasonography. Some studies have seen a distinctive “collar hoop” sign wherein there is a small bony protuberance at the interface between the femoral metaphysis and the diaphysis. The metaphysis is poorly ossified as well. Prenatal molecular testing of FGFR3 can confirm the diagnosis.

A neonate with achondroplasia may have physical features that are characteristic of the condition: rhizomelic (proximal) shortening of the upper and lower extremities, with extra skin creases at the knees and elbows; short fingers with a trident configuration of the hand (the second, third, and fourth digits seem similar in length and are splayed); and macrocephaly with frontal bossing and a depressed nasal bridge. Because 20% of neonates with achondroplasia may not have these …

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Pediatrics in Review: 40 (6)
Pediatrics in Review
Vol. 40, Issue 6
1 Jun 2019
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Achondroplasia
Elaine Pereira
Pediatrics in Review Jun 2019, 40 (6) 316-318; DOI: 10.1542/pir.2018-0009

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Achondroplasia
Elaine Pereira
Pediatrics in Review Jun 2019, 40 (6) 316-318; DOI: 10.1542/pir.2018-0009
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