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.

scholarly journals Age at Menarche, the Leg Length to Sitting Height Ratio, and Risk of Diabetes in Middle-Aged and Elderly Chinese Men and Women

PLoS ONE ◽  
2012 ◽  
Vol 7 (3) ◽  
pp. e30625 ◽  
Author(s):  
Baqiyyah N. Conway ◽  
Xiao-Ou Shu ◽  
Xianglan Zhang ◽  
Yong-Bing Xiang ◽  
Hui Cai ◽  
...  
Keyword(s):  
Age At Menarche ◽  
Leg Length ◽  
Middle Aged ◽  
Height Ratio ◽  
Men And Women ◽  
Chinese Men ◽  
Sitting Height ◽  
Elderly Chinese

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

Developing waist circumference, waist-to-height ratio percentile curves for Pakistani children and adolescents aged 2–18 years using Lambda-Mu-Sigma (LMS) method

2020 ◽  
Vol 33 (8) ◽  
pp. 983-993 ◽  
Author(s):  
Muhammad Asif ◽  
Muhammad Aslam ◽  
Saima Altaf ◽  
Sajid Mustafa
Keyword(s):  
Waist Circumference ◽  
Central Obesity ◽  
The Other ◽  
Height Ratio ◽  
Age And Gender ◽  
Percentile Curves ◽  
Lms Method ◽  
Waist To Height Ratio ◽  
And Gender ◽  
Gender Specific

AbstractObjectivesChildren from different countries and with different ethnic backgrounds have a distinct pattern of central fat deposition. Therefore, it is essential to develop population-specific percentiles of waist circumference (WC), waist-to-height ratio (WHtR) and waist-to-height ratio exponent (WHtR (exp)) for the evaluation of central obesity. The objective of this study was to develop age-and-gender-specific smoothed WC and WHtR percentile curves for the Pakistani children and adolescents aged 2–18 years.MethodsA cross-sectional data-set from a multi-ethnic anthropometric survey was considered. A sample of 10,668 healthy subjects (boys = 51.92%; and girls = 48.08%), aged 2–18 years was studied. Height (cm) and WC (cm) of each subject was measured under standard procedure and WHtR & WHtR (exp) were calculated. Age-and-gender-specific smoothed curves were obtained using the lambda-mu-sigma (LMS) method and compared with percentile curves obtained from different countries.ResultsExcept few early ages, the WC values increased with age in both sexes. Both boys and girls had approximately similar WC during 6–11 years of age and after age of 11, the boys had larger WC than the girls had. For WHtR, the centile curves showed a continuous decrease by 16 years of age and then increased gradually. WHtR of the girls in various ages were having similar or higher than those of the boys. In comparison of WC 50th and 90th percentiles with other countries, it was found that except few ages, the Pakistani children had larger WC than the other reference populations and the results of WHtR were also comparable to the other nations.ConclusionsWe present new reference data of WC, WHtR and WHtR (exp) using a representative sample of the Pakistani children aged 2–18 years. These reference values can be used provisionally for early detection of central obesity and its associated risks in the Pakistani children.

scholarly journals Which is a better marker for overweight: waist height ratio or waist circumference?

2019 ◽  
Vol 7 (2) ◽  
pp. 462
Author(s):  
Sanam Anwar ◽  
Bushra Aleem ◽  
Hajir H. Rashid ◽  
Ghadeer J. Moslhey
Keyword(s):  
Body Mass Index ◽  
Waist Circumference ◽  
Body Fat ◽  
Roc Curve ◽  
Nutritional Assessment ◽  
Height Ratio ◽  
Overweight People ◽  
Prevalence Of Obesity ◽  
Males And Females ◽  
Waist Height Ratio

Background: The global prevalence of obesity has been increasing. Body mass index, waist circumference and waist height ratio have been widely used for nutritional assessment. Waist height ratio has the advantage of taking into account abdominal obesity as well as height associated with body fat accumulation or distribution. The objective of this study was to suggest cut off points for waist circumference and waist height ratio to identify overweight in Omani adults.Methods: Weight, height, waist circumference and waist height ratio were measured for all participants. Pearson’s correlation was used to determine correlation of BMI with waist circumference and waist height ratio. ROC curve was used to identify AUC and specific cut off point for anthropometric indicators.Results: The largest proportion of overweight was picked up by waist height ratio across both the genders. Correlation of BMI with waist height ratio was stronger (r=0.699) than correlation with waist circumference (r=0.589) for both the genders. Maximum AUC was for waist height ratio in males (AUC=0.833, 95% CI=0.791-0.875). The specific cut off point for waist circumference in males and females was 89.5cm and 87.6cm respectively. The specific cut off point for waist height ratio in males and females was 0.53 and 0.57 respectively.Conclusions: Maximum participants were found overweight by waist height ratio followed by waist circumference and the least by BMI. The higher cut off points should be used in this population for identifying overweight people.

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.

The Sitting Height/Height Ratio for Age in Healthy and Short Individuals and Its Potential Role in Selecting Short Children for SHOX Analysis

2013 ◽  
Vol 80 (6) ◽  
pp. 449-456 ◽  
Author(s):  
Alexsandra C. Malaquias ◽  
Renata C. Scalco ◽  
Eveline G.P. Fontenele ◽  
Everlayny F. Costalonga ◽  
Alexandre D. Baldin ◽  
...  
Keyword(s):  
Potential Role ◽  
Height Ratio ◽  
Sitting Height ◽  
Short Children

Abstract 056: Normative Accelerometer-determined Steps/day from 6-85 Years of Age: NHANES 2005-2006

Circulation ◽  
2013 ◽  
Vol 127 (suppl_12) ◽  
Author(s):  
Catrine Tudor-Locke ◽  
John M Schuna ◽  
Tiago V Barreira ◽  
Emily F Mire ◽  
Stephanie T Broyles ◽  
...  
Keyword(s):  
Screening Program ◽  
Distinct Pattern ◽  
Accelerometer Data ◽  
Ambulatory Activity ◽  
Health And Nutrition ◽  
Standardized Protocol ◽  
Lms Method ◽  
Males And Females ◽  
Nationally Representative ◽  
Single Instrument

Introduction: Reference values used to interpret objectively monitored ambulatory activity (steps/day) represent summarized data collected with different instruments and protocols and aggregated across typically small, select, and disparate samples (e.g., sex composition and age groupings). A full distribution of nationally representative normative data presented by sex-age year collected using a single instrument and a standardized protocol is preferred. The purpose of this analysis of the 2005-2006 National Health and Nutrition Examination Survey (NHANES) accelerometer data is to provide smoothed (i.e., using LMS curve analyses) sex-age rankings from 6-85 years of age. Hypothesis: We hypothesized that, across the lifespan, accelerometer-determined steps/day would be 1) higher in males than females; and 2) lower with higher ages. Methods: Objectively monitored steps/day were measured using the ActiGraph accelerometer (model 7164) worn for 7 consecutive days. The analysis sample was comprised of 6,354 (51.8% female) individuals with valid accelerometer data (≤1 days with ≤10 monitored hours). Percentile values (25 th , 50 th , 75 th , 95 th ) were computed for each single-year age by sex using the LMS method (LMS Chartmaker Pro Version 2.3). To avoid artificially creating sex/age differences through modeling procedures, the L, M and S parameters were chosen using the entire sample then applied to males and females separately to create the curves. Apparent differences by sex and age were noted. Results: LMS curves for steps/day percentile values are presented in the Figure. Steps/day were higher for males than females at every age. A distinct pattern of incrementally reduced steps/day was apparent with higher age across the lifespan. Conclusions: Sex and age are apparent modifiers of steps/day. These normative accelerometer-determined steps/day values can be used for multiple purposes including screening, program development and evaluation, comparison between populations, and tracking change.

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