Arm Span and Its Relation to Height in a 2- to 17-Year-Old Reference Population and Heterozygous Carriers of ACAN Variants

Gerver, Willem‐Jan M.; Gkourogianni, Alexandra; Dauber, Andrew; Nilsson, Ola; Wit, Jan M.

doi:10.1159/000508500

Cited by 20 publications

(13 citation statements)

References 16 publications

(34 reference statements)

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“…In Bosnian and Herzegovinian population, arm span was slightly lesser in females than average stature which is contrary to results of our study. 7,20,21 Although most studies have supported the results of present study but differences make the population unique among others. The extent of correct measurement of stature by arm span using regression equation was also high in present study.…”

Section: Discussionsupporting

confidence: 55%

Is Arm-span an accurate measure of stature? A cross sectional study in North Indian population

et al. 2021

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Background: The estimation of inter-relationship between various body parameters and stature has been an important tool in anthropometric measurements. It is found to be of great importance in such cases where direct measurement of stature is not possible. A wide variety of parameters are used for estimation of stature including arm spam, hand length, foot length, demi span, knee height, sitting position etc. In this study arm span is used for stature estimation. Aims and Objective: To find the accuracy of arm-span in predicting standing height of both males and females in studied population. Materials and Methods: The study involved 600 participants (300 males and 300 females). The data for study collected from Rajasthan by means of community visits. The standing height and arm-span were measured for each individual and analyzed. Correlation coefficient and regression equation was generated. Results: A positive correlation was found to exist between the arm-span and stature. The correlation coefficient r was found to be 0.9. In the studied population, the arm span was found to be a strong predictor of Stature. Conclusion: It can be concluded that arm-span can be used in estimation of the height of both males and females. Arm span is reliable tool for obtaining the approximate stature of an individual. It can be used for the purpose of medico-legal cases too.

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Section: Discussionsupporting

confidence: 55%

Is Arm-span an accurate measure of stature? A cross sectional study in North Indian population

et al. 2021

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“…Sitting height, leg length, and sitting height/height ratio were expressed as SDS for age and sex based on the 1997 Dutch reference ( 8 ). Arm span and arm span/height ratio were expressed as SDS for Dutch children ( 9 , 10 ). Weight-for-height and body mass index were expressed as SDS based on the 1980 nationwide growth study ( 11 ).…”

Section: Methodsmentioning

confidence: 99%

Evidence That Non-Syndromic Familial Tall Stature Has an Oligogenic Origin Including Ciliary Genes

et al. 2021

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Human growth is a complex trait. A considerable number of gene defects have been shown to cause short stature, but there are only few examples of genetic causes of non-syndromic tall stature. Besides rare variants with large effects and common risk alleles with small effect size, oligogenic effects may contribute to this phenotype. Exome sequencing was carried out in a tall male (height 3.5 SDS) and his parents. Filtered damaging variants with high CADD scores were validated by Sanger sequencing in the trio and three other affected and one unaffected family members. Network analysis was carried out to assess links between the candidate genes, and the transcriptome of murine growth plate was analyzed by microarray as well as RNA Seq. Heterozygous gene variants in CEP104, CROCC, NEK1, TOM1L2, and TSTD2 predicted as damaging were found to be shared between the four tall family members. Three of the five genes (CEP104, CROCC, and NEK1) belong to the ciliary gene family. All genes are expressed in mouse growth plate. Pathway and network analyses indicated close functional connections. Together, these data expand the spectrum of genes with a role in linear growth and tall stature phenotypes.

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“…There was subtle disproportionality with a median sitting height/height ratio of +2.2 SD (range −2.4 to +7.5) in the pediatric group, although with marked interindividual variability. However, upper extremity length was preserved: median AS for height (HT) of +1.3 SD (range +0.3 to +2.2) in the pediatric group and −0.3 SD (range −1.1 to +2.3) in adults (W. J. M. Gerver et al, 2020). Head circumference was normal in both the pediatric (median +0.3 SD , range −1.9 to +1.6) and adult (median −0.1 SD , range −1.3 to +1.6) cohorts.…”

Section: Resultsmentioning

confidence: 99%

Clinical phenotype and musculoskeletal characteristics of patients with aggrecan deficiency

Alexandrou

Dauber

Tyzinski

et al. 2022

American J of Med Genetics Pt A

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Aggrecan is a proteoglycan within the physeal and articular cartilage. Aggrecan deficiency, due to heterozygous mutations in the ACAN gene, causes dominantly inherited short stature and, in many patients, early‐onset osteoarthritis and degenerative disc disease. We aimed to further characterize this phenotypic spectrum with an emphasis on musculoskeletal health. Twenty‐two individuals from nine families were enrolled. Histories and examinations focused on joint health, gait analysis, joint specific patient reported outcomes, and imaging studies were performed. All patients had dominantly inherited short stature, with the exception of a de novo mutation. Short stature was worse in adults versus children (median height −3.05 SD vs. −2.25 SD). ACAN mutations were not always associated with bone age advancement (median advancement +1.1 years, range 0 to +2 years). Children had subtle disproportionality and clinically silent joint disease—25% with osteochondritis dissecans (OD). Adults had a high prevalence of joint symptomatology–decline in knee function, disability from spinal complaints, and lower physical activity on outcome measures. Osteoarthritis (OA) and OD was detected in 90% of adults, and orthopedic surgeries were reported in 60%. Aggrecan deficiency leads to short stature with progressive decline in height SD, mild skeletal dysplasia, and increasing prevalence of joint pathology over time. Optimal musculoskeletal health and quality of life can be attained with timely identification of pathology and intervention.

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Arm Span and Its Relation to Height in a 2- to 17-Year-Old Reference Population and Heterozygous Carriers of ACAN Variants

Cited by 20 publications

References 16 publications

Is Arm-span an accurate measure of stature? A cross sectional study in North Indian population

Is Arm-span an accurate measure of stature? A cross sectional study in North Indian population

Evidence That Non-Syndromic Familial Tall Stature Has an Oligogenic Origin Including Ciliary Genes

Clinical phenotype and musculoskeletal characteristics of patients with aggrecan deficiency

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