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. 2020 Nov 21;185(2):401–412. doi: 10.1002/ajmg.a.61974

FIGURE 2.

FIGURE 2

Growth charts of two boys with atypical achondroplasia height pattern: Growth of the boy in green is probably influenced by foramen magnum stenosis with atrophy of medulla oblongata with paraplegia and hypoventilation requiring nighttime respiratory support. His length develops at the lower extremes of achondroplasia, that is, at −3 SDS as of 2 years of age, mainly due to limitations of leg growth (shown in Supporting information S3). His head grows normally until 12 months of age but slows down thereafter resulting in a “loss” in growth chart position; head circumference SDS at 12, 16, and 43 months respectively: +0.1, −0.6, −2.0 SDS. Note that his curve is corrected for 6 weeks prematurity. Height development in the other boy (in blue), probably growth hormone (GH) deficient and also with failure to thrive, stops at about 2 years of age resulting in a change of height position from −0.4 SDS to −4.5 SDS at 5 years of age, when GH therapy (GH Rx) is initiated. Following treatment start, a partial catch‐up growth is seen, −3.7 SDS at 7 years of age, mainly depending on increased position in sitting height (shown in Supporting information S3) [Color figure can be viewed at wileyonlinelibrary.com]