What is it about?

Achondroplasia is the most common form of inherited disproportionate short stature. There is a lack of knowledge about growth in height and milestones during puberty for children with Achondroplasia.

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Why is it important?

In boys the mean adult height was 129.18 cm. Age and velocity at peak velocity in puberty were 13.89 yr and 4.86 cm/yr respectively. The adolescent gain was 20.40 cm. In girls the mean adult height was 118.67 cm. Age and velocity at peak velocity in puberty were 11.45 yr and 4.40 cm/yr respectively. The adolescent gain was 19.35 cm. Achondroplasia children experienced an adolescent growth spurt and it was similar in shape and half the magnitude of non-Achondroplasia population.

Perspectives

Writing this article was a great pleasure as it has co-authors with whom I have had long standing working. This article also lead to achondroplasia, to a greater involvement in rare disease research.

Mariana del Pino
Hospital de Pediatria Garrahan

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This page is a summary of: Growth velocity and biological variables during puberty in achondroplasia, Journal of Pediatric Endocrinology and Metabolism, February 2018, De Gruyter,
DOI: 10.1515/jpem-2017-0471.
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