FGFR3-related hypochondroplasia: longitudinal growth in 57 children with the p.Asn540Lys mutation
-
María Alejandra Arenas
,
Mariana del Pino
Abstract
Background
Children with hypochondroplasia (HCH), who have FGFR3 mutations c.1620C>A or c.1620C>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.
Acknowledgments
Thanks to patients and families.
Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.
Research funding: None declared.
Employment or leadership: None declared.
Honorarium: None declared.
Competing interests: The funding organization(s) played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.
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Supplementary Material
The online version of this article offers supplementary material (https://doi.org/10.1515/jpem-2018-0046).
©2018 Walter de Gruyter GmbH, Berlin/Boston
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- Frontmatter
- Original Articles
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- Cardiometabolic risk factors in preschool children with abdominal obesity from Medellín, Colombia
- Long-term follow-up of gonadal dysfunction in morbidly obese adolescent boys after bariatric surgery
- Prevalence of overweight and obesity and anthropometric reference centiles for Albanian children and adolescents living in four Balkan nation-states
- High urate concentration is associated with elevated blood pressure in schoolchildren
- The association of hs-CRP and fibrinogen with anthropometric and lipid parameters in non-obese adolescent girls with polycystic ovary syndrome
- Leptin and adiposity as mediators on the association between early puberty and several biomarkers in European adolescents: the HELENA Study
- Adolescents with premenstrual syndrome: not only what you eat but also how you eat matters!
- Thyroid dysfunction in children with leukemia over the first year after hematopoietic stem cell transplantation
- Morning vs. bedtime levothyroxine administration: what is the ideal choice for children?
- Basal characteristics and first year responses to human growth hormone (GH) vary according to diagnostic criteria in children with non-acquired GH deficiency (naGHD): observations from a single center over a period of five decades
- The prevalence and volumetry of pituitary cysts in children with growth hormone deficiency and idiopathic short stature
- SHOX gene deletion screening by FISH in children with short stature and Madelung deformity and their characteristics
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