Biological Identification of Skulls in Indonesian and Thai Populations: Ancestry Estimation, Sex Determination, Stature Estimation, and Age Estimation / Identificación Biológica de Cráneos en Poblaciones de Indonesia y Tailandia: Estimación de Ascendencia, Determinación del Sexo, Estimación de Estatura y Estimación de Edad

SUMMARY: This review article will present an overview of biological profiles in forensic utilities. The biological profile of the skull in the existing literature can help to identify humans, especially if the condition of the victim found is a result of mutilation or a bomb explosion. When it comes to the precision of identifying skeletal remains, the human skull is frequently cited as being first in the estimation of age and ancestry and second in terms of sex and stature. It can be an alternative to assessing the following biological parameters: sex, age, stature, and ancestry. The implementation of biological profiles in the identification process is very important considering that some cases require the assistance of forensic anthropology. This review article shows the importance of the value of skulls. The method that can be applied is craniometry which can be used to determine sex, age, stature, and estimated ancestry. Different results will occur depending on the completeness of the skull. Therefore, estimation formulas have different accurate results. Discriminant function analysis has been performed on various measurement sets and its discriminant power has been validated by many researchers. Geometric morphometric analysis has become the main tool for shape analysis and many attempts have been made to use it in analyzing skulls. Several methods supported by technology have also been developed. It is hoped that the review article will show significant differences in results between studies in Thailand and Indonesia, even though they are in the same racial group.

Este artículo presenta una descripción general de los perfiles biológicos en las utilidades forenses. El perfil biológico del cráneo en la literatura existente puede ayudar a identificar a los humanos, especialmente si la condición en la que se encuentra la víctima es el resultado de una mutilación o la explosión de una bomba. Cuando se trata de la precisión en la identificación de restos óseos, el cráneo humano se cita con frecuencia como el primero en la estimación de edad y ascendencia y el segundo en términos de sexo y estatura. Puede ser una alternativa para evaluar los siguientes parámetros biológicos: sexo, edad, estatura y ascendencia. La implementación de perfiles biológicos en el proceso de identificación es importante considerando que algunos casos requieren la asistencia de la antropología forense. Este artículo de revisión muestra la importancia del valor de las cnezas óseas. El método que se puede aplicar es la craneometría para determinar el sexo, la edad, la estatura y la ascendencia estimada. Se pueden obtener diferentes resultados dependiendo de la integridad del cráneo. Por lo tanto, las fórmulas de estimación tienen resultados precisos diferentes. Se ha realizado un análisis de función discriminante en varios conjuntos de medidas y muchos investigadores han validado su poder discriminante. El análisis a través de la morfometría geométrica se ha convertido en la principal herramienta para el análisis de formas y se ha utilizado frecuentemente en el análisis de cráneos. También se han desarrollado varios métodos apoyados en la tecnología. Se espera que este trabajo muestre diferencias significativas en los resultados entre los estudios realizados en Tailandia e Indonesia, aunque pertenezcan al mismo grupo racial.

Clinical and Genetic Study on 48 Children with Short Stature of Unknown Etiology / 中山大学学报(医学科学版)

ObjectiveTo explore the clinical features and causative genes of short stature children with unknown etiology， providing evidence for precise clinical diagnosis and treatment. MethodsThe study recruited children with suspected but undiagnosed short stature from the pediatric endocrinology department in our hospital between January 2018 and August 2022. A retrospective analysis was performed on the clinical manifestations， laboratory test and whole exome sequencing （WES） results. Causative genes were classified and analyzed according to different pathogenic mechanisms. ResultsA total of 48 children （30 boys and 18 girls） were enrolled， aged 7.73 ± 3.97 years， with a height standard deviation score （ HtSDS） of -3.63 ± 1.67. Of the patients， 33 （68.8%） suffered from facial anomalies， 31 （64.6%） from skeletal abnormalities， 26 ［54.2%， 61.5% of whom born small for gestational age （SGA）］ from perinatal abnormalities， 24 ［50.0%， 87.5% of whom with growth hormone （GH） peak concentration below normal］ from endocrine disorders and 21（43.8%） had a family history of short stature. Laboratory tests showed that GH peak concentration following stimulation test was （9.72 ± 7.25） ng/mL， IGF-1 standard deviation score was -0.82 ± 1.42， the difference between bone age and chronological age was -0.93 ± 1.39 years. Of the 25 cases with mutant genes found by WES， 14 （56.0%） had pathogenic mutation， 6 （24.0%） likely pathogenic mutation， and 5 （20.0%） mutation of uncertain significance. Pathogenic and likely pathogenic variants were identified in 14 genes， including 10 affecting intracellular signaling pathways （PTPN11， RAF1， RIT1， ARID1B， ANKRD11， CSNK2A1， SRCAP， CUL7， SMAD4 and FAM111A） and 4 affecting extracellular matrix （ECM） components or functions （ACAN， FBN1， COL10A1 and COMP）. ConclusionsA rare monogenic disease should be considered as the possible etiology for children with severe short stature accompanied by facial anomalies， disproportionate body types， skeletal abnormalities， SGA， GH peak concentration below normal and a family history of short stature. WES played an important role in identifying the monogenic causes of short stature. This study indicated that affecting growth plate cartilage formation through intracellular signaling pathways and ECM components or functions was the main mechanism of causative genes leading to severe short stature in children. Further research may help discover and study new pathogenic variants and gene functions.

Estimation of Stature Based on Metatarsal Bones in a Thai Population / Estimación de la Estatura Basada en los Huesos Metatarsianos en una Población Tailandesa

SUMMARY: Stature estimation is one of the essential procedures for personal identification in forensic osteology. Therefore, the purposes of this study are to analyze the correlation between length and width of metatarsal measurements and stature, and to develop the regression equations for a Thai population. In this study, the samples were divided into two groups. The first group was called the "training group" for generating stature estimation equations, comprised of 200 skeletons, aged between 19-94 years. The second group was called the "test group" for evaluating the accuracy of generated equations, comprising 40 skeletons. The correlation between metatarsal parameters and stature were moderate to high, and all variables had positive significant correlation with stature. For males, the left ML2 is the length variable that showed the most correlation degree against stature (r=0.702), and the left MSW4 is the width variable that had the most correlation degree against stature (r=0.483). For females, right ML1 is the length variable that had the most correlation degree against stature (r=0.632), and right PW3 is the width stature that had the most correlation degree against stature (r=0.481). For all samples, left ML1 was the length variable that had the most correlation degree against stature (r=0.796) and right PW3 was the width variable that had the most correlation degree against stature (r=0.712). The results of generating multiple regression equations using a stepwise method reveals that the correlation coefficient (R) and standard error of estimate (SEE) were 0.761 and 4.96 cm, respectively, for males, and 0.752 and 4.93 cm for females, with 0.841 and 5.26 cm for all samples, respectively. According to these results, the mean of absolute error from the test group ranged from 3 to 5 cm. Therefore, stature estimation equations using length and width of metatarsals from our study can be applied to estimate stature in the Thai population.

La estimación de la estatura es uno de los procedimientos esenciales para la identificación personal en osteología forense. Por lo tanto, los propósitos de este estudio fueron analizar la correlación entre la longitud y el ancho de las medidas metatarsianas y la estatura, y desarrollar las ecuaciones de regresión para una población tailandesa. Las muestras se dividieron en dos grupos. El primer grupo se denominó "grupo de entrenamiento" para generar ecuaciones de estimación de estatura, compuesto por 200 esqueletos, con edades comprendidas entre los 19 y los 94 años. El segundo grupo se denominó "grupo de prueba" para evaluar la precisión de las ecuaciones generadas, que comprende 40 esqueletos. La correlación entre los parámetros metatarsianos y la estatura fue de moderada a alta, y todas las variables tuvieron una correlación significativa positiva con la estatura. Para el sexo masculino, la variable longitud ML2 izquierda es la que mayor grado de correlación presentó con la estatura (r=0,702), y la izquierda MSW4 fue la variable ancho la que mayor grado de correlación presentó con la estatura (r=0,483). Para el sexo femenino, ML1 derecho fue la variable longitud que tuvo mayor grado de correlación con la estatura (r=0,632), y PW3 derecha fue la variable ancho estatura que tuvo mayor grado de correlación con la estatura (r=0,481). Para todas las muestras, ML1 izquierdo fue la variable longitud que tuvo mayor grado de correlación con la estatura (r=0,796) y PW3 derecha fue la variable ancho que tuvo mayor grado de correlación con la estatura (r=0,712). Los resultados de generar ecuaciones de regresión múltiple usando un método paso a paso revela que el coeficiente de correlación (R) y el error estándar de estimación (SEE) fueron 0,761 y 4,96 cm, respectivamente, para los hombres y 0,752 y 4,93 cm para las mujeres, con 0,841 y 5,26 cm para todas las muestras, respectivamente. De acuerdo con estos resultados, la media del error absoluto del grupo de prueba osciló entre 3 y 5 cm. Por lo tanto, las ecuaciones de estimación de la estatura que utilizan la longitud y el ancho de los metatarsianos de nuestro estudio se pueden aplicar para estimar la estatura en la población tailandesa.

FBN1 gene mutation in a Chinese pedigree of mild Geleophysic dysplasia type 2/Acromicric dysplasia and the exploration of growth-promoting therapy / 中华内分泌代谢杂志

Objective:To summarize the clinical and genetic features of 7 patients with a mild form of Geleophysic dysplasia type 2(GD2)/Acromicric dysplasia(AD) induced by fibrillin 1(FBN1) gene mutation from one Chinese family.Methods:A Chinese pedigree of mild GD2/AD treated at the Pediatric Endocrinology Department at the First Affiliated Hospital of Sun Yat-sen University between August 2017 and May 2022 was collected. Whole-exome genetic sequencing of the FBN1 gene were performed to establish the diagnosis. Additionally, a literature review was further conducted.Results:In this family, among 13 individuals spanning three generations, there were 7 affected cases, including 1 adult female, 1 adult male, and 5 children. All individuals exhibited postnatal growth failure, severe disproportionate short stature, and lacked typical facial features. Exome sequencing and Sanger sequencing confirmed the presence of a heterozygous missense mutation c. 5099A>G(p.Tyr1700Cys) in exon 42 of the FBNI gene in 6 affected individuals(Ⅱ-1, Ⅲ-1 to Ⅲ-5), which was identified as a pathogenic mutation. This mutation was previously reported in a Chinese classical achondroplasia(AD) family. Based on comprehensive genetic analysis, clinical features, and multisystem evaluation, 3 cases were diagnosed with mild type 2 growth hormone deficiency(GD2), and 4 cases were diagnosed with mild AD. Recombinant human growth hormone(rhGH; 1.1-1.4 IU·kg -1·week -1) was applied to all the 5 children, and additional gonadotropin releasing hormone analogue(GnRHa) was administered to the 2 girls in late puberty, resulting in certain growth-promoting effect. Conclusions:The c. 5099A>G(p.Tyr1700Cys) mutation not only leads to the classical type of achondroplasia(AD) as reported in the literature but also causes the non-classical GD2 or AD(mild GD2/AD). Further research is warranted to investigate the long-term therapeutic effects of rhGH treatment.

Adult Léri-Weill dyschondrosteosis coexists with endocrinal metabolic disorders: a report of two cases / 中华内分泌代谢杂志

Léri-Weill dyschondrosteosis (LWD) has typical triad: short middle limbs, short stature, Madelung deformity of wrist, and increased body mass index. Short stature and high body mass index are risk factors for metabolic syndrome, type 2 diabetes, cardiovascular diseases, and autoimmune thyroid diseases. However, metabolic disorders and thyroid diseases in adult LWD patients have not been elucidated. This paper reports two adult patients with LWD presented to the Department of Endocrinology and metabolism. By introducing clinical characteristics, genetic variations, and diagnostic methods, physicians can deepen their understanding of LWD, improve diagnosis, and be aware of the comorbid metabolic diseases and thyroid disorders with a view of early prevention and treatment.

A case of Acromicric dysplasia with FBN1 mutation / 中华内分泌代谢杂志

Acromicric dysplasia(AD) is a rare skeletal dysplasia characterized by severe short stature, short hands and feet, normal intelligence, mild facial dysmorphism, and radiological characteristics. The clinical data and genetic test results of one patient with AD in our hospital were analyzed, and the clinical characteristics of this case were summarized. The main manifestations of the child were short stature, short hands and feet, mild facial dysmorphism, short and stubby metacarpals and phalanges on hand X-ray. One mutation, FBN1: c.5141T>G(p.Met1714Arg), was identified in this child, the mutation is inherited from her short mother and grandfather. AD is a rare congenital skeletal dysplasia disorder associated with mutations in the FBN1 gene. It conforms to the pathogenesis of autosomal dominant genetic disease.

Advances in genetic etiology of isolated growth hormone deficiency / 国际儿科学杂志

Isolated growth hormone deficiency(IGHD)is a growth disorder characterized by short stature.The etiology and pathogenesis of IGHD are still not fully understood.IGHD can be caused by congenital(heredity and/or malformations)or acquired(tumors, physical trauma, inflammation, brain infections, or radiation therapy)factors.The most common genes in its genetic etiology are the growth hormone 1(GH1)and growth hormone-releasing hormone receptor(GHRHR). In rare cases, IGHD may be caused by mutations in transcription factors such as HESX1, SOX3, OTX2, POU1F1, etc.The disease phenotype of IGHD patients is highly variable.Correct diagnosis and early treatment are crucial for the long-term prognosis of IGHD patients.This review mainly discusses advance of IGHD gene mutation and disease phenotype.

Advances in the pathogenesis and treatment of short stature in Noonan syndrome / 国际儿科学杂志

Noonan syndrome(NS)is an inherited disease involving multiple systems.The main clinical manifestations include distinctive facial features, short stature, heart defects, developmental delay and chest deformity.Short stature, reported in up to 70% of NS patients, is one of the main reasons NS patients seek medical treatment.The pathogenesis is associated with the up-regulation of RAS-mitogen activated protein kinase(RAS-MAPK)signal pathway.Further study is needed for some further specific mechanisms.Recombinant human growth hormone(rhGH)therapy has been approved for NS patients with short stature and has achieved a good therapeutic effect.However, the knowledge of drug dosage, influencing factors, long-term efficacy and risk of rhGH treatment is still insufficient.This paper reviews the pathogenesis and treatment of short stature in NS, providing help for the treatment and management of the disease.

Advances in acromelic dysplasia caused by FBN1 mutation / 国际儿科学杂志

The mutation of FBN1 gene results in the abnormality of its encoded fibrillin-1 protein, which affects musculoskeletal growth and results in two opposing phenotypes of tall and short stature, with clinical manifestations of Marfan syndrome and acromelic dysplasia.Acromelic dysplasia caused by FBN1 mutation includes acromicric dysplasia(AD), geleophysic dysplasia(GD)and Weill-Marchesani syndrome(WMS). As some FBN1 mutations have been reported to cause both AD and GD.The dysregulation of TGF-β signal pathway is the underlying mechanism of acromelic dysplasia.Currently, there is no specific treatment, mainly symptomatic treatment, early identification, diagnosis and treatment will improve prognosis of patients.This article will review the pathogenesis, clinical phenotype, treatment and follow-up of acromelic dysplasia caused by FBN1 mutation.

Laron syndrome: A tale of two siblings / Journal of the ASEAN Federation of Endocrine Societies

@#Primary growth hormone (GH) resistance or growth hormone insensitivity syndrome, also called Laron syndrome, is a hereditary disease caused by mutations in the GH receptor or in the post-receptor signaling pathway. This disorder is characterized by postnatal growth failure resembling GH deficiency. Differentiating the two conditions is necessary. We present the cases of two siblings, a 16-year-old female and a 9-year-old male, born from a consanguineous union. Both had normal birth weights with subsequent severe short stature and delayed teeth eruption, with no features suggestive of any systemic illness. Serum insulin-like growth factor 1 (IGF1) and insulin-like growth factor binding protein 3 (IGFBP3) were both low. Suspecting GH deficiency, provocative testing with clonidine was done revealing peak growth hormone >40 ng/mL in both patients. In view of low IGF1 and IGFBP3 and high GH on stimulation, IGF1 generation test was done for both siblings, with values supporting the diagnosis of GH insensitivity or Laron syndrome.

Chromosomal abnormalities detected by karyotyping among patients with secondary amenorrhea: a retrospective study

ABSTRACT BACKGROUND: Chromosomal abnormalities (CAs) have been described in patients with secondary amenorrhea (SA). However, studies on this association are scarce. OBJECTIVES: To evaluate the frequency and types of CAs detected by karyotyping in patients with SA. DESIGN AND SETTING: This retrospective study was performed in a reference clinical genetic service in South Brazil. METHODS: Data were obtained from the medical records of patients with SA who were evaluated between 1975 and 2022. Fisher's bicaudate exact test and Student's t-test were used, and P < 0.05 was considered significant. RESULTS: Among 43 patients with SA, 14 (32.6%) had CAs, namely del (Xq) (n = 3), 45,X (n = 2), 46,X,r(X)/45,X (n = 2), 46,XX/45,X (n = 1), 46,X,i(q10)/45,X (n = 1), 47,XXX (n = 1), 46,XX/47,XXX (n = 1), 46,XX/47,XX,+mar (n = 1), 45,XX,trob(13;14)(q10;q10)/46,XXX,trob(13;14)(q10;q10) (n = 1), and 46,XX,t(2;21)(q23;q11.2) (n = 1). Additional findings were observed mostly among patients with CA compared with those without CA (P = 0.0021). No difference in the mean age was observed between the patients with SA with or without CAs (P = 0.268025). CONCLUSIONS: CAs are common among patients with SA, especially those with short stature and additional findings. They are predominantly structural, involve the X chromosome in a mosaic, and are compatible with the Turner syndrome. Patients with SA, even if isolated, may have CAs, particularly del (Xq) and triple X.

Effect of recombinant human growth hormone on serum Klotho and fibroblast growth factor 23 in children with idiopathic short stature / 中国当代儿科杂志

OBJECTIVES@#To investigate the changes in the serum levels of Klotho, fibroblast growth factor 23 (FGF23), and insulin-like growth factor-1 (IGF-1) in children with idiopathic short stature (ISS) before and after recombinant human growth hormone (rhGH) treatment, as well as the correlation of Klotho and FGF23 with the growth hormone (GH)/IGF-1 growth axis in these children.@*METHODS@#A prospective study was conducted on 33 children who were diagnosed with ISS in the Department of Pediatrics, Hebei Provincial People's Hospital, from March 10, 2021 to December 1, 2022 (ISS group). Twenty-nine healthy children, matched for age and sex, who attended the Department of Child Healthcare during the same period, were enrolled as the healthy control group. The children in the ISS group were treated with rhGH, and the serum levels of Klotho, FGF23, and IGF-1 were measured before treatment and after 3, 6, and 9 months of treatment. A correlation analysis was conducted on these indexes.@*RESULTS@#There were no significant differences in the serum levels of IGF-1, Klotho, and FGF23 between the ISS and healthy control groups (P>0.05). The serum levels of Klotho, FGF23, and IGF-1 increased significantly in the ISS group after 3, 6, and 9 months of rhGH treatment (P<0.05). In the ISS group, Klotho and FGF23 levels were positively correlated with the phosphate level before treatment (P<0.05). Before treatment and after 3, 6, and 9 months of rhGH treatment, the Klotho level was positively correlated with the IGF-1 level (P<0.05), the FGF23 level was positively correlated with the IGF-1 level (P<0.05), and the Klotho level was positively correlated with the FGF23 level (P<0.05), while Klotho and FGF23 levels were not correlated with the height standard deviation of point (P>0.05).@*CONCLUSIONS@#The rhGH treatment can upregulate the levels of Klotho, FGF23, and IGF-1 and realize the catch-up growth in children with ISS. Klotho and FGF23 may not directly promote the linear growth of children with ISS, but may have indirect effects through the pathways such as IGF-1 and phosphate metabolism. The consistent changes in Klotho, FGF23 and IGF-1 levels show that there is a synergistic relationship among them in regulating the linear growth of ISS children.

Attaching great importance to the scientific assessment of short stature in children / 中国当代儿科杂志

Short stature is a common physical developmental abnormality in children. Without timely and accurate diagnosis, as well as early intervention, it can impose a heavy burden on the children and their families. There are numerous causes for short stature, and the diagnostic process essentially involves identifying its underlying causes. Based on a thorough understanding of the regular patterns of child physical development and the characteristics of individuals at high risk of short stature, a scientific definition of short stature needs to be established, along with standardized diagnostic and treatment protocols, to achieve early diagnosis or referral for short stature. Furthermore, it is necessary to enhance scientific awareness of short stature among parents and primary care pediatricians, in order to avoid over-treatment, missed diagnoses, and misdiagnoses arising from "misconceptions", and to improve the scientific assessment of short stature.

Determination of Stature Using Tooth Length

Background: Stature plays a major role in forensic identification. It is also considered to be one of the fundamental compo- nents of physical anthropology. When a full skeleton is not available, stature can be estimated from incomplete human remains. Teeth form an excellent material for anthropological, genetic, odontologic and forensic investigations. Various studies have ventured to ascertain the usefulness of tooth crown measurements in stature prediction. Methodology: Tooth lengths of all 28 teeth except 3rd molars were measured on digital OPG using inbuilt software IMPAXH (Agfa, Belgium). Stature was measured from the vertical distance from the vertex of head to the floor. Correlation between the tooth length and height of an individual was done by Pearson correlation test and linear regression analysis for prediction of stature from tooth length. Result & conclusion: Overall the results revealed that individual tooth variables have a good correlation with stature with r value ranging from 0.12-0.57 and p value less than 0.05. Among the tooth lengths, the length of the maxillary right molars showed the highest correlation with stature followed by maxillary right premolars and maxillary right canine than the other teeth. Regression equation was generated from tooth length, to predict height.

Correlation of body mass index to Ghrelin and IGF-1 among children with short stature

Abstract Objective: To assess the BMI among children with Growth Hormone Deficiency (GHD) and Idiopathic Short Stature (ISS) and its correlation to ghrelin, Growth Hormone (GH), and Insulin-like Growth Factor-1 (IGF-1) levels. Methods: A cross-sectional descriptive study in which 42 patients attending the Pediatric endocrine clinic were enrolled, allocated into two groups: group I: GHD children; group II: ISS children. Ghrelin, IGF-1 and GH in both groups were measured. Results: Ghrelin was significantly higher among GHD group (p < 0.001). Overall, there was a strong negative correlation between IGF-1 and ghrelin (r = -0.977, p-value = < 0.001) while a moderate positive correlation between ghrelin and BMI (r = 0.419, p-value = 0.006). There was a weak positive non-significant correlation between IGF-1 and BMI (r = 0.276, p-value = 0.077). In GHD group, there was a weak positive non-significant correlation between ghrelin and GHmax measurement (r = 0.052, p-value = 0.824), while a weak negative non-significant correlation between both variables in ISS group (r = -0.243, p-value = 0.288). In GHD group, there was a moderate positive correlation between ghrelin and BMI (r = 0.500, p-value = 0.021), but weak negative non-significant correlation between both variables in ISS group (r = -0.255, p-value = 0.265). Conclusion: There was a negative feedback loop between ghrelin and IGF-1, whereas a positive feedback between ghrelin and BMI. BMI was more affected in the ISS group but was non-signifi-cantly correlated with ghrelin. There was no significant compensatory response of ghrelin suggesting its contribution to the pathogenesis of ISS.

PTPN11 gene mutation mediated Noonan syndrome in children with idiopathic short stature / 中华内分泌代谢杂志

Objective:To analyze the genetic etiology of idiopathic short stature(ISS) children, and to investigate the clinical characteristics of Noonan syndrome caused by PTPN11 gene mutation, and the response to recombinant human growth hormone(rhGH) as well.Methods:Genomic DNA was extracted from the peripheral blood of 232 ISS patients, and the genome was detected by whole exon sequencing. The gene variation was analyzed according to the guideline of American College of Medical Genetics and Genomics(ACMG), and clinical baseline data and follow-up data of rhGH treatment were collected from PTPN11 gene pathogenic patients.Results:Among 232 ISS patients, 6 were found to have PTPN11 pathogenic gene variants(c.1507G>C, c. 317A>G, c. 923A>G, c. 922A>G, c. 236A>G, c. 922A>G), diagnosed as Noonan syndrome. Together with 3 cases of Noonan syndrome patients(all PTPN11 gene variation C. 1510A>G) previously diagnosed in our hospital, the clinical characteristics of patients were analyzed. Among the 9 Noonan syndrome patients, 7 were boys and 2 were girls. The average age was 10.2(4.5, 14.7) years old, and their height standard deviation score was -3.06 SD(95% CI -2.29 SD--3.94 SD). Among them, 4 patients received rhGH treatment with an average treatment duration of 2.25(1.5, 3.5) years. After treatment, their height increased by 14.3(8.6, 23.9) cm, and the change in height standard deviation score improved by 0.21 SD(95% CI 0.12 SD-0.27 SD). Conclusion:Noonan syndrome has a wide range of clinical phenotypes. For children with short stature, heart defects and cryptorchidism, the possibility of Noonan syndrome should be considered. PTPN11 is the common pathogenic gene for Noonan syndrome, and genetic testing facilitates the early diagnosis, treatment, and follow-up prognosis of Noonan syndrome patients.

Case report of acromesomelic dysplasia Maroteaux type caused by the NPR2 gene mutation / 中华实用儿科临床杂志

Clinical data of a child with acromesomelic dysplasia Maroteaux type (AMDM) treated in the Department of Pediatrics, Tianjin Medical University General Hospital at November 2018 was retrospectively analyzed.The female child aged 3 years and 3 months old with 83 cm height (-3.84 SD) had clinical manifestations of disproportionate short stature, disproportionate shortening of forearms and forelegs, and stubby fingers and toes.Gene sequencing identified compound heterozygous mutations, c.1640T>A(p.Val547Asp)/c.682G>A(p.Gly228Ser), in the NPR2 gene, which have not been reported in the Human Gene Mutation Database.Their protein function was predicted harmful.The child was diagnosed as AMDM.During the follow-up until 4 years and 8 months old, the child was 90 cm tall (-4.35 SD), with a growth velocity of 4.9 cm/year.She was treated with recombinant human growth hormone (rhGH) treatment for 9 months and regularly followed up.The child was now 98.2 cm height (-3.07 SD) and she had a growth velocity of 10.9 cm/year.This case report enriched the gene mutation spectrum of AMDM.Treatment with rhGH can effectively improve the height of the child, but the long-term effect needs further follow-up and observation.

Stature estimation from radiographic measurements in adult Anatolian population / Estimación de la estatura a partir de mediciones radiográficas en una población adulta de anatolia

SUMMARY: The purpose of the present study was to create a regression equation for measuring stature using measurements obtained from the long bone radiographs of adult individuals in Anatolian population. In this study, the maximum length measurements of the six long bones in the upper and lower limbs of 167 healthy individuals were determined from radiographic images. Single and multiple regression equations were created to predict the stature of the individuals from the maximum bone stature. From these equations, the standard error of estimate was determined in the range of 1.68-4.09 cm. As a result of this study, the obtained regression equations resulted in highly reliable and successful results in terms of predicting stature. These equations will provide convenient and predictive accuracy in the estimation of stature from skeletal remains obtained from societies that lived and living in Anatolia. Besides, we anticipate that it will guide researchers working in the fields of Forensic Anthropology, Forensic Medicine and Anatomy.

RESUMEN: El propósito del presente estudio fue crear una ecuación de regresión para medir la estatura utilizando medidas obtenidas de las radiografías de huesos largos de individuos adultos en la población de Anatolia. En este estudio, las medidas de longitud máxima de los seis huesos largos en los miembros superiores e inferiores de 167 individuos sanos se determinaron a partir de imágenes radiográficas. Se crearon ecuaciones de regresión única y múltiple para predecir la estatura de los individuos a partir de la estatura ósea máxima. A partir de estas ecuaciones, se determinó el error estándar de estimación en el rango de 1,68 a 4,09 cm. Como resultado de este estudio, las ecuaciones de regresión obtenidas dieron resultados altamente confiables y exitosos en términos de predecir la estatura. Estas ecuaciones proporcionarán una precisión conveniente y predictiva en la estimación de la estatura a partir de restos óseos obtenidos de sociedades que vivieron y viven en Anatolia. Además, anticipamos que guiará a los investigadores que trabajan en los campos de Antropología Forense, Medicina Forense y Anatomía.

Hand and handprint measurements in the estimation of stature in a Sri Lankan population / Mediciones de manos y huellas de manos en la estimación de la estatura en una población de Sri Lanka

SUMMARY: The present study was undertaken to generate sex-specific simple and multiple regression models for the estimation of stature using hand and handprint measurements in a Sri Lankan population. The sample comprises 51 males and 66 females in the age range of 20 to 26 years. The stature and eight measurements from each hand and its corresponding print of each subject were collected using standard anthropometric instruments and techniques. All hand and handprint measurements showed significantly positive correlation (p value < 0.05) with the stature in both sexes. Stature prediction accuracy for simple linear regression equations ranged from ±4.41-5.92 cm and ±4.0- 5.22 cm for the left and right hand measurements in males and females, respectively. The corresponding figures for the left and right handprint measurements were ±4.57-5.95cm and ±4.36-5.52 cm, respectively. The highest stature prediction accuracy was shown by the multiple regression models derived from hand measurements. The stature estimating formulae reported in this study using hand measurements have important application in the identification of unknown human remains, particularly when they are partial, mutilated or dismembered. Similarly, it is envisaged that formulae derived from the handprint measurements will be useful in crime scene investigations.

RESUMEN: El estudio se llevó a cabo para generar modelos de regresión simple y múltiple de acuerdo al sexo, para la estimación de la estatura utilizando medidas de manos y huellas de manos en una población de Sri Lanka. La muestra comprendió 51 hombres y 66 mujeres entre 20 a 26 años de edad. Se analizaron la estatura y ocho medidas de cada mano y su impresión correspondiente de cada sujeto utilizando instrumentos y técnicas antropométricas estándar. Todas las mediciones de manos y las huellas de manos indicaron una correlación significativamente positiva (valor de p <0.05) con la estatura en ambos sexos. La precisión de la predicción de la estatura para las ecuaciones de regresión lineal simple varió de ± 4,41 a 5,92 cm y ± 4,0 a 5,22 cm en las medidas de la mano izquierda y derecha en hombres y mujeres, respectivamente. Las cifras correspondientes para las medidas de la huella de la mano izquierda y derecha fueron ± 4,57-5,95 cm y ± 4,36-5,52 cm, respectivamente. La precisión de predicción de la estatura más alta se mostró mediante los modelos de regresión múltiple derivados de las mediciones manuales. Las fórmulas de estimación de la estatura reportadas en este estudio utilizando medidas manuales tienen una aplicación importante en la identificación de restos humanos desconocidos, particularmente cuando son parciales, o se encuentran mutilados o desmembrados. Además, se prevé que las fórmulas derivadas de las mediciones de huellas de manos serán útiles en las investigaciones criminales.

Study on the correlation of bone age and bone mineral density with age, height and weight in children with short stature / 公共卫生与预防医学

Objective To study the correlation of bone age and bone mineral density with age, height and weight of short children. Methods Sixty-four short children who were consulted and treated at the author's hospital from January 2016 to October 2018 were selected as research subjects. The general information including age, sex, height and weight of the children were recorded. The ultrasound bone density test was carried out at the same time. The bone mineral density and bone age were evaluated through plain carpal bone radiograph. The relationship between different bone age and bone mineral density value with age, height and weight was analyzed. Results The actual age of the enrolled children was positively correlated with bone mineral density and bone age (boys r=0.658, 0.919, girls r=0.641, 0.906). The height of the enrolled children was positively correlated with bone mineral density and bone age (boy r=0.561, 0.326, girls r=0.586, 0.349). The weight of the enrolled children was positively correlated with bone mineral density and bone age (boys r=0.340, 0.314, girls r=0.395, 0.282). Conclusion The bone age and bone mineral density of short children were positively correlated with their age, height and weight. In clinical diagnosis and treatment, the use of bone age and bone mineral density as a guide can produce more significant effects, which can be used as scientific indicators for the evaluation and prediction of short children.