Leg length, sitting height, and body proportions references for achondroplasia: New tools for monitoring growth

2018 ◽  
Vol 176 (4) ◽  
pp. 896-906 ◽  
Author(s):  
Mariana del Pino ◽  
Rosario Ramos Mejía ◽  
Virginia Fano
Keyword(s):  
Body Proportions ◽  
Leg Length ◽  
Sitting Height

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

2018 ◽  
Vol 0 (0) ◽  
Author(s):  
María Alejandra Arenas ◽  
Mariana del Pino ◽  
Virginia Fano
Keyword(s):  
Head Circumference ◽  
Retrospective Cohort ◽  
Adult Height ◽  
Body Proportions ◽  
Leg Length ◽  
Severe Phenotype ◽  
Height Ratio ◽  
Sitting Height ◽  
Lms Method ◽  
Males And Females

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.

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 ◽  
...  
Keyword(s):  
Body Proportions ◽  
Leg Length ◽  
Sitting Height ◽  
Foot Length ◽  
Arm Span

scholarly journals Auxology Is a Valuable Instrument for the Clinical Diagnosis of SHOX Haploinsufficiency in School-Age Children with Unexplained Short Stature

2003 ◽  
Vol 88 (10) ◽  
pp. 4891-4896 ◽  
Author(s):  
Gerhard Binder ◽  
Michael B. Ranke ◽  
David D. Martin
Keyword(s):  
Short Stature ◽  
De Novo ◽  
Fragment Size ◽  
Mutation Screening ◽  
Idiopathic Short Stature ◽  
Paternal Allele ◽  
Leg Length ◽  
Sitting Height ◽  
Arm Span ◽  
Hand Radiography

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.

scholarly journals Early-life exposures and cardiovascular disease risk among Ghanaian migrant and home populations: the RODAM study

2019 ◽  
Vol 11 (3) ◽  
pp. 250-263 ◽  
Author(s):  
Daniel Boateng ◽  
Ina Danquah ◽  
Rihlat Said-Mohamed ◽  
Liam Smeeth ◽  
Mary Nicolaou ◽  
...  
Keyword(s):  
Cardiovascular Disease ◽  
Early Life ◽  
Atherosclerotic Cardiovascular Disease ◽  
Inverse Association ◽  
Leg Length ◽  
Cvd Risk ◽  
Standard Deviation Increase ◽  
Sitting Height ◽  
Ascvd Risk ◽  
Early Life Exposures

AbstractEarly-life environmental and nutritional exposures are considered to contribute to the differences in cardiovascular disease (CVD) burden. Among sub-Saharan African populations, the association between markers of early-life exposures such as leg length and sitting height and CVD risk is yet to be investigated. This study assessed the association between leg length, sitting height, and estimated 10-year atherosclerotic cardiovascular disease (ASCVD) risk among Ghanaian-born populations in Europe and Ghana. We constructed sex-specific quintiles for sitting height and leg length for 3250 participants aged 40–70 years (mean age 52 years; men 39.6%; women 60.4%) in the cross-sectional multicenter Research on Diabetes and Obesity among African Migrants study. Ten-year risk of ASCVD was estimated using the Pooled Cohort Equations; risk ≥7.5% was defined as “elevated” CVD risk. Prevalence ratios (PR) were estimated to determine the associations between sitting height, leg length, and estimated 10-year ASCVD risk. For both men and women, mean sitting height and leg length were highest in Europe and lowest in rural Ghana. Sitting height was inversely associated with 10-year ASCVD risk among all women (PR for 1 standard deviation increase of sitting height: 0.75; 95% confidence interval: 0.67, 0.85). Among men, an inverse association between sitting height and 10-year ASCVD risk was significant on adjustment for study site, adult, and parental education but attenuated when further adjusted for height. No association was found between leg length and estimated 10-year ASCVD risk. Early-life and childhood exposures that influence sitting height could be the important determinants of ASCVD risk in this adult population.

Differences in Serbian and Libyan crane operators’ anthropometric measurements and cabin interior space modeling

Work ◽  
2020 ◽  
pp. 1-16
Author(s):  
Aleksandar Brkić ◽  
Zorica Veljković ◽  
Vesna Spasojevic Brkić ◽  
Ahmed Essdai ◽  
Snežana Pavićević
Keyword(s):  
Leg Length ◽  
Interior Space ◽  
Sitting Height ◽  
Space Modeling ◽  
Different Dimensions ◽  
Almost All ◽  
First Time ◽  
Univariate Approach ◽  
Weight Data ◽  
Cabin Interior

BACKGROUND: Previous research has shown that the collection and analysis of crane operators’ anthropometric characteristics is very important for operators’ comfort, health and working ability and also from the aspect of performance, productivity and safety. OBJECTIVE: The first aim of this survey is to collect up-to-date anthropometric data of crane operators 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. The third aim is to model the interior space necessary to accommodate operators in the cabins they operate in Serbia and Libya. METHODS: Standing height, sitting height, lower leg length, upper leg length, shoulder width, hip breadth, arm length, foot length and weight data were collected of 83 Serbian and 50 Libyan crane operators. Descriptive statistics, correlation analysis and tests for differences between variables were conducted to examine differences between Serbian and Libyan crane operators and enable further modeling. The modeling of the cabin interior was done using both univariate and multivariate operators’ models from both samples. RESULTS: There are only four common correlations between variables for both samples. The only measurement without statistical differences is shoulder width. Serbian crane operators have statistically higher values of almost all measurements in comparison to Libyans. The minimal cabin interior space dimensions are 1207×1080×1884 mm for Serbian operators and 1106×1040×1790 mm for Libyan operators when using univariate approach, while multivariate approach provides more precise and comfortable accommodation within 1327×1123×1926 mm for Serbian operators and 1203×1090×1830 mm for Libyan operators. Accordingly, our survey shows that percentile models include less than the intended population proportion in the design problem with few dimensions and depends on correlations among them. CONCLUSIONS: A number of problems are solved through modeling the crane operator workspace and it has been shown that cabins with different dimensions have to be offered to Serbian and Libyan markets.

Growth Hormone Therapy in Children with Kabuki Syndrome: 1-year Treatment Results

2017 ◽  
Vol 88 (3-4) ◽  
pp. 258-264 ◽  
Author(s):  
Dina A. Schott ◽  
Willem J.M. Gerver ◽  
Constance T.R.M. Stumpel
Keyword(s):  
Growth Hormone ◽  
Gh Deficiency ◽  
Standard Deviation Score ◽  
Height Velocity ◽  
Kabuki Syndrome ◽  
Body Proportions ◽  
Leg Length ◽  
Gh Treatment ◽  
Igf I ◽  
Rhgh Treatment

Background/Aims: Kabuki syndrome (KS) is a rare genetic malformation syndrome, resulting in characteristic features such as short stature. We investigate whether growth hormone (GH) treatment increases linear height and influences body proportions in KS children. Methods: In this prospective study, 18 genetically confirmed prepubertal KS children (9 females and 9 males) aged from 3.8 to 10.1 years (mean 6.8 ± 2.1 years) were treated with recombinant human GH (rhGH) for 1 year. Calculations for height, height velocity, BMI, sitting height, and subischial leg length were made. Bone age, insulin-like growth factor (IGF-I), and IGF binding protein 3 (IGFBP-3) were also measured. Results: This study showed an increase in height standard deviation score (SDS) for the whole group from –2.40 to –1.69 (p < 0.05) after 1 year of rhGH treatment. The change in height SDS within 1 year was >0.7 SDS for 10 subjects and >0.5 SDS for 3 subjects. The mean IGF-I SDS at the start of the study was –0.70 (±1.07), which increased after 12 months to 1.41 (±0.91) (p < 0.05). KS children who received rhGH at a younger age displayed significantly greater increases in height than those who started when they were older. The same was true for both gene mutation KMT2D versus KDM6A and for GH deficiency versus non-GH deficiency KS children (p < 0.05). Throughout the course of rhGH treatment, the subjects’ body proportions remained normal. Conclusions: All participants experienced catch-up growth during the year of rhGH treatment, but without an influence on body proportions.

PREDICTION OF FAT-TO-PROTEIN RATIO IN LAMB CARCASSES

1964 ◽  
Vol 44 (1) ◽  
pp. 102-105 ◽  
Author(s):  
W. A. Jordan ◽  
G. I. Pritchard ◽  
D. P. Heaney ◽  
H. F. Jeffers
Keyword(s):  
Body Weight ◽  
Practical Importance ◽  
Carcass Weight ◽  
Ether Extract ◽  
Positive Relationships ◽  
Prediction Equations ◽  
Body Proportions ◽  
Leg Length ◽  
Protein Ratio ◽  
Scientific Investigations

A study of relationships between weights or simple measures of body proportions and fat-to-protein ratio in lamb carcasses (ether extract-to-N × 6.25 in completely ground carcass side) showed several positive relationships of practical importance. Width of carcass at shoulders was the most useful criterion (r = 0.68) for predicting fat-to-protein ratio, followed by carcass weight, body weight, heart girth, and carcass depth with r values of 0.64, 0.60, 0.58, and 0.52 respectively. While these relationships lead to prediction equations that are not sufficiently precise for most scientific investigations, they are sufficiently high to warrant consideration when assessing the value of such measurements in carcass evaluation and in selection. Leg length, carcass length, and carcass width at hips had lower relationships to fat-to-protein ratio in carcasses, which were of doubtful value even for practical purposes. Area of eye of lean showed no relationship to fat-to-protein ratio.

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