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Background Children with hypochondroplasia (HCH), who have FGFR3 mutations c.1620C&gt;A or c.1620C&gt;G (p.Asn540Lys) appear to have a more severe phenotype than those with HCH without these mutations. We describe the change in height, leg length and body proportions in a retrospective cohort of children with HCH related-p.Asn540Lys mutation and we compared them with Argentine population. Methods Anthropometric measurements were initially taken and followed up by the same observer, with standardized techniques. Sitting height/height and head circumference/height ratio were calculated as a body disproportion indicator. In order to make a comparison with the Argentine population height average, centiles of height, leg length and body proportions were estimated by the LMS method. Results The sample consisted of 57 HCH children (29 males and 28 females) between the ages of 0-18 years. The median (interquartile range) number of measurements per child was 8 (4.3, 13) for height, 7 (4, 12) for sitting height and 7.5 (4, 12.8) for head circumference. Leg length increased from 17 cm at birth to approximately 54 cm in adolescents, 25 cm shorter than the leg length in non-HCH populations. Sitting height increased from 39 cm at birth to 81 cm in adolescents, 7 cm below mean in non-HCH adolescents. Mean (range) adult height were 143.6 cm (131-154.5) and 130.8 cm (124-138) for males and females, respectively. Conclusions The disharmonic growth between the less affected trunk and the severely affected limbs determine body disproportion in HCH.

FGFR3 -related hypochondroplasia: longitudinal growth in 57 children with the p.Asn540Lys mutation