Development of body proportions in achondroplasia: Sitting height, leg length, arm span, and foot length

2018 ◽  
Vol 176 (9) ◽  
pp. 1819-1829 ◽  
Author(s):  
Andrea Merker ◽  
Luitgard Neumeyer ◽  
Niels Thomas Hertel ◽  
Giedre Grigelioniene ◽  
Klaus Mohnike ◽  
...  
2003 ◽  
Vol 88 (10) ◽  
pp. 4891-4896 ◽  
Author(s):  
Gerhard Binder ◽  
Michael B. Ranke ◽  
David D. Martin

Abstract SHOX (short stature homeobox-containing gene) mutations causing haploinsufficiency have been reported in some individuals with idiopathic short stature and in many patients with Leri-Weill-dyschondrosteosis. Around 80% of SHOX mutations are complete gene deletions, whereas diverse point mutations account for the rest. The aim of this study was to estimate the prevalence of SHOX mutations in children with idiopathic short stature and to give an unbiased characterization of the haploinsufficiency phenotype of such children. We recruited 140 children (61 girls), in our clinic, with idiopathic short stature, which was defined by the presence of normal IGF-I and free T4; a normal karyotype in females; the absence of endomysium antibodies, of chronic organic, psychological, or syndromatic disease; and by the lack of clear signs of any osteodysplasia. Height, arm span, and sitting height were recorded, and subischial leg length was calculated. Two highly polymorphic microsatellite markers located around the SHOX coding region (CA-SHOX repeat and DXYS233) were PCR-amplified with fluorescent primers and separated in an automatic sequencing machine. Analysis of parental DNA was performed in the probands who had only one fragment size of each of both markers. SHOX haploinsufficiency caused by a SHOX deletion was confirmed in three probands (2%), all females, who carried a de novo deletion through loss of the paternal allele. Their auxological data revealed a significant shortening of arms and legs in the presence of a low-normal sitting height, when compared with the other 137 children tested. Therefore, the extremities-trunk ratio (sum of leg length and arm span, divided by sitting height) for total height was significantly lower in the three SHOX haploinsufficient probands, in comparison with the whole group. This observation was confirmed with the auxological data of five additional patients (four females) previously diagnosed with SHOX haploinsufficiency; all but the youngest girl had height-adjusted extremities-trunk ratios more than 1 sd below the mean. All children with SHOX haploinsufficiency exhibited at least one characteristic radiological sign of Leri-Weill-dyschondrosteosis in their left-hand radiography, namely triangularization of the distal radial epiphysis, pyramidalization of the distal carpal row, or lucency of the distal ulnar border of the radius. Our observations suggest that it is rational to limit SHOX mutation screening to children with an extremities-trunk ratio less than 1.95 + 1/2 height (m) and to add a critical judgment of the hand radiography.


Author(s):  
María Alejandra Arenas ◽  
Mariana del Pino ◽  
Virginia Fano

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.


Author(s):  
Bas Penders ◽  
Ralph Brecheisen ◽  
Angèle Gerver ◽  
Geertjan van Zonneveld ◽  
Willem-Jan Gerver

AbstractTaking multiple anthropometric measurements for the description of body proportions in an accurate way is a time-consuming procedure that requires specific tools and skills. This is why we developed an alternative method based on digital photography for taking these measurements which is faster and easier to use, to make anthropometry more user-friendly and approachable to paediatricians.We conducted a cross-sectional study in 54 children between 2 and 18 years of age. We compared manual measurements with photogrammetric measurements to validate our method.Inter-observer correlations of all measurements are ≥0.96 and mean differences are 0.3–0.9 cm, except for arm span. Comparison of manual to photogrammetric measurements shows mean differences of 0.6–1.3 cm, with correlations ≥0.92, except for sitting height and arm span. Correlations of ratios between methods are height/sitting height (Photogrammetric anthropometry is faster, easier to use and provides the paediatrician with more flexibility as taking the digital photographs and performing the analysis are separated.


Author(s):  
Mariana do Nascimento Sena Oliveira ◽  
Daniel da Rocha Queiroz ◽  
Marlene Salvina Fernandes da Costa ◽  
Arthur Henrique Oliveira da Silva ◽  
José Francisco da Silva ◽  
...  

Abstract This study aimed to estimate the propulsive force of the arm (PFA) in young freestyle swimmers and propose an equation to estimate propulsive force, considering anthropometric variables and maturity offset. Seventy-six competitive swimmers [boys: n= 53; age= 13.58 ± 1.79; girls: n= 23; age= 12.98 ± 1.79] participated in this study. Height, lean mass, sitting height, leg length, arm span, triceps skinfold, arm muscle area (AMA), and maturity offset were assessed. The propulsive force of the arm was measured by the tethered swim test. A multiple linear regression (concurrent model) was used to develop the equation using the variables AMA, arm span, and maturity offset. The Bland–Altman method was used to compare the values found between PFA and propulsive force–estimated (PFE). There was a significant correlation between the variables PFA and AMA (R²=0.12; p<0.01), arm span (R²=0.21; p<0.01), and maturity offset (R²=0.20; p<0.01) for boys, whilst in girls theses values were: AMA (R²=0.07;p=0.20), arm span (R²=0.50;p<0.01), and maturity offset (R²=0.44;p<0.01). Two linear equations were established to predict the PFA in boys and girls Bland-Altman analysis showed an agreement between PFA and PFE. In conclusion, the equation is a valuable tool to monitor training and help improve swimmer performance.


2020 ◽  
Vol 2020 ◽  
pp. 1-11
Author(s):  
Zorica Veljković ◽  
Aleksandar Brkić ◽  
Vesna Spasojevic Brkić ◽  
Milivoj Klarin ◽  
Ahmed Essdai ◽  
...  

The collection and analysis of anthropometric characteristics for various passenger car user populations is a very important predecessor of the design process. The first aim of this survey is to collect up-to-date anthropometric data for male passenger car drivers in Serbia and to collect those data for the first time in Libya. The second aim of this survey is to compare the collected data and enable further modeling using both univariate and multivariate operators’ models from both samples. Anthropometric measurements on standing height, sitting height, lower leg length, upper leg length, shoulder width, hip breadth, arm length, and foot length were collected for 921 Serbian and 300 Libyan male drivers. Results show that, for Serbian male drivers, a correlation between variables exists in 67.85% cases, while for Libyan male drivers, a correlation between variables exists in 39.28% cases. The comparison of mean values between variables for Serbian and Libyan male drivers showed that, beside shoulder width, all others have significantly higher values for Serbians than for Libyikans. Consequently, there are different interior space dimensions of the vehicle obtained: for Serbian drivers, interior space dimensions amounted to 1500 × 561 × 1230 mm and for Libyan drivers amounted to1400 × 591 × 1155 mm which are useful to passenger car designers in eliminating existing anthropometric inconsistencies.


2017 ◽  
Vol 4 (4) ◽  
pp. 161054 ◽  
Author(s):  
Pavel Grasgruber ◽  
Stevo Popović ◽  
Dominik Bokuvka ◽  
Ivan Davidović ◽  
Sylva Hřebíčková ◽  
...  

The aim of this anthropometric survey, conducted between 2015 and 2016 in Bosnia and Herzegovina (BiH), was to map local geographical differences in male stature and some other anthropometric characteristics (sitting height, arm span). In addition, to investigate the main environmental factors influencing physical growth, the documented values of height would be compared with available nutritional and socioeconomic statistics. Anthropometric data were collected in 3192 boys aged approximately 18.3 years (17–20 years), from 97 schools in 37 towns. When corrected for population size in the examined regions, the average height of young males in BiH is 181.2 cm (181.4 cm in the Bosniak-Croat Federation, 180.9 cm in Republika Srpska). The regional variation is considerable—from 179.7 cm in the region of Doboj to 184.5 cm in the region of Trebinje. These results fill a long-term gap in the anthropological research of the Western Balkans and confirm older reports that the population of the Dinaric Alps is distinguished by extraordinary physical stature. Together with the Dutch, Montenegrins and Dalmatians, men from Herzegovina (183.4 cm) can be regarded as the tallest in the world. Because both nutritional standards and socioeconomic conditions are still deeply suboptimal, the most likely explanation of this exceptional height lies in specific genetic factors associated with the spread of Y haplogroup I-M170. The genetic potential for height in this region could then be the greatest in the world. Future studies should further elucidate the roots of this intriguing phenomenon, which touches an important aspect of human biodiversity.


Author(s):  
Nur Mujaddidah Mochtar

Background: There are various circumstances where measurements are not actually possible, replacement parameters can be used to estimate body height. Many characteristics of body height measurement and how to measure it. These include anthropometric measurements that can be used for the identification of medicolegal-forensic processes. Body height in clinical medicine and in the field of scientific research can be easily estimated using various anthropometric parameters such as arm span, knee height, foot length and foot breadth, and others. The arm span and foot length has proved to be one of the most reliable predictors. This study was conducted to estimate of body height from arm span and foot length using the regression equation and to determine the correlation between the body height and arm span and foot length.Methods: This study was conducted at Universitas Muhammadiyah Surabaya with 182 Javanese female students. Stature, arm span and foot length measured directly using anthropometric technique and measuring tape. The data obtained were then analyzed with SPSS version 16. The regression equation was derived for the estimate of body height and the relationship between stature, arm span and foot length determined by the Pearson correlation.               Results: We found that the mean body height of Javanese women was 1534,45 ± 47,623  mm, mean of arm span 1543,25 ± 60,468 mm and the mean of foot length 226,14 ± 9,586 mm. The correlation between stature and arm span was positive and significant (r = 0,715  , p <0,05). The correlation between stature and foot length was positive and significant (r = 0,726 , p <0,05). The correlation between stature and arm span and foot length was positive and significant (r = 0,798, p <0,05).               Conclusion: Body height correlates well with the arm span and foot length so that it can be used as a reliable marker for high estimates using regression equations.


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