Stature estimation for Saudi men based on different combinations of upper limb part dimensions

Estimating stature based on body/limb parts can help define the characteristics of unidentified bodies. The most studied upper limb part is the hand, although few studies have examined whether stature can be estimated using fingers plus other hand dimensions. Moreover, there is paucity in anthropometric studies that determined whether bilateral whole limb parts (e.g., arms, forearms, and hands) are related to stature among the living subjects.This prospective cross-sectional study aimed to evaluate the relationship between different upper limb measurements and the stature of Saudi men. Furthermore, I assessed whether upper limb asymmetry was present, and developed regression models to estimate stature based on different available measurements. Stature and 13 upper limb parameters were measured for 100 right-handed Saudi men who were 18 to 24 years old.All measurements were positively correlated with stature (P < .001), and the best single predictor was the bilateral ulnar length. Asymmetry was more pronounced in the hand measurements. A multiparameter model provided reasonable predictive accuracy (±3.77–5.68 cm) and was more accurate than single-parameter models. Inclusion of the right-side fingers improved the model''s accuracy.This study developed potential models for estimating stature during the identification of bodies of Saudi men.     

A dominantly inherited malformation syndrome with short stature,upper limb anomaly,minor craniofacial anomalies,and absence of TBX5 mutations: Report of a Thai family

We report on a Thai family with dominantly inherited malformation syndrome with upper limb anomalies, short stature, quadricuspid aortic valve, and minor craniofacial anomalies. The affected individuals comprised a mildly affected mother, a moderately affected daughter, and a most severely affected son. The daughter and son had short stature. The craniofacial abnormalities comprised frontal bossing, hypoplastic nasal bones, depressed nasal bridge, and broad nasal alae. The upper limb defects varies among the patients, ranging from radial ray defects in the mother through radial and ulnar ray defects with unilateral humeral hypoplasia in the daughter to radial ray defects with severe oligodactyly and bilateral humeral hypoplasia in the son. All patients in this family had hypoplasia of the shoulder girdle and resembled what is observed in many families with Holt‐Oram syndrome. Moreover, the son showed quadricuspid aortic valve with mild aortic regurgitation. However, the present family did not show any mutation of the TBX5 gene, a disease‐causing gene of Holt‐Oram syndrome. The present family deserves further investigation on other genes that play a role in the development of the upper limbs, particularly of radial rays. © 2002 Wiley‐Liss, Inc.     

Absent chondrodysplasia punctata in a male with an Xp terminal deletion involving the putative region for CDPX1 locus

This is a follow-up report on a male patient with a 46, Y, r(X) karyotype. Although he had no clinico-radiological features of X-linked recessive chondrodysplasia punctata (CDPX1), molecular studies revealed an Xp terminal deletion involving the putative region for the CDPX1 locus (PABX-DXS31). We suspect that the absence of CDPX1 may be attributable to the nature of the disease and the extreme short stature of the patient (mean – 5.6 S.D.). © 1993 Wiley-Liss, Inc.     

Growth, bone maturation and pubertal development in children with the EMG-syndrome

In 7 patients (5 girls, 2 boys) with the EMG or Wiedemann-Beckwith syndrome, statural growth, bone age (BA), weight and pubertal development were studied longitudinally. Height was above the 90th percentile (%) for chronological age (CA) after age 2 years, reaching an average of 2.5 SD above the mean at or after puberty. Adult or attained height also exceeded significantly (P<0.015) parental (genetic) target height by 13.2 cm on the average. In one girl, adult height prognosis (190 cm) could be reduced to an adult height of 183 cm by high-dose estrogen treatment. In most children, growth velocity remained above the 90th % up to 4–6 years of age and normalized thereafter. In all patients studied, bone age was markedly advanced and particularly so during the first 4 years after birth. Weight was above the 90th–97th % during infancy and early childhood and remained there, appropriate or slightly subnormal for height, until adulthood, except for 3 girls who reached and maintained the 50th % during or after puberty. Spontaneous pubertal development occurred within normal limits for CA and around the 50th % for BA. Except for the marked bone age acceleration, the reason for the increased statural growth and adult height in patients with the EMG syndrome is still unknown.     

特发性身材矮小儿童成骨细胞的功能状况

目的通过检测特发性身材矮小(ISS)儿童血清骨碱性磷酸酶(BAP)及骨钙蛋白(OC)水平,探讨其成骨细胞的功能状况。方法ISS组36例及健康对照组儿童50例。ISS组分为青春期前组及青春期组。测各组儿童身高、体质量、体质量指数,采用CHN法评定左侧手、腕部骨化指标,计算骨龄。采用ELISA法测其血清BAP及OC水平。结果青春期前,ISS儿童血清BAP及OC水平为(79.90±25.96)U/Lvs(60.96±18.46)μg/L,健康对照组为(152.17±35.36)U/Lvs(76.16±28.03)μg/L;青春期,ISS儿童血清BAP及OC水平为(108.33±35.20)U/Lvs(63.82±24.81)μg/L,健康对照组为(156.30±35.29)U/Lvs(104.92±28.26)μg/L。青春期前及青春期ISS组血清BAP及OC水平均明显低于健康对照组,存在显著性差异(Pa<0.01)。结论ISS儿童以成骨细胞为中心环节的骨塑造和再造能力均较健康生长发育少年儿童差。     

Rapadilino syndrome

We report on a boy with severe radial hypoplasia, absent thumbs and patellae, short stature, persistent diarrhea, slender nose and normal intelligence as another example of the RAPADILINO syndrome. © 1992 Wiley-Liss, Inc.     

Greenberg dysplasia (hydrops–ectopic calcification–moth‐eaten skeletal dysplasia): Prenatal ultrasound diagnosis and review of literature

A second pregnancy of young, nonconsanguineous parents of Macedonian ethnic origin was examined by ultrasound. Polyhydramnios and hydrops fetalis were found as well as severe short limb, short stature, and cystic hygroma of the neck. An artificial abortion was performed at the age of 23 weeks. The radiological features included moth‐eaten severely shortened long bones and ectopic calcifications of long bones, vertebral column, ribs, pelvis, larynx, trachea. In addition, the fetus had large head with depressed nasal bridge, severe platyspondyly, and short barrel‐shaped trunk. Light microscopy demonstrated lack of chondrocyte columns and disorganization of the cartilaginous architecture. This is the seventh reported case of this rare form of lethal skeletal dysplasia. © 2002 Wiley‐Liss, Inc.     

575名新疆汉族青年学生手长、掌长与身高的关系

目的：研究新疆汉族青年手长、掌长与身高的关系，为人类学、法医学提供参考，同时为中国人体质调查积累资料。方法：应用Ｈｒｄｌｉｃａｓ标准和我国普遍采用的方法测量了５７５名（男２７０名，女３０５名）１８～２４岁汉族青年学生的手长、掌长和身高，并将原始数据进行医学统计学处理。结果：按年龄组和性别组计算出各组手长、掌长和身高的均值，身高与手长、掌长的比值。并提出由手长、掌长推算身高的简单公式（身高＝手长×比值，身高＝掌长×比值）和回归方程（身高＝回归系数×手长＋截距，身高＝回归系数×掌长＋截距）。结论：手长、掌长和身高各组性差有显著性（Ｐ＜０．０１）；由手长、掌长推算身高的简单公式和回归方程成立（Ｐ＜０．０５）。     

不同生长激素分泌状态的矮身材儿童血脂水平的研究

目的 探讨不同生长激素分泌状态下矮身材儿童血脂水平的差异,为生长激素缺乏对儿童体脂代谢的影响提供理论依据。方法 收集矮身材儿童188例,依据生长激素药物激发试验峰值分为生长激素完全缺乏(cGHD)组、生长激素部分缺乏(pGHD)组、非生长激素缺乏性(nGHD)组,研究对象均禁食禁水10 h后空腹测定总胆固醇(TC)、三酰甘油(TG)、低密度脂蛋白胆固醇(LDL)和高密度脂蛋白胆固醇(HDL)4项血脂水平。结果 3组儿童HDL水平比较差异无统计学意义(P>0.05);3组儿童TC、TG、LDL、non-HDL水平比较差异均有统计学意义(P<0.05);组间两两比较,cGHD组TC、LDL、non-HDL水平较其他组明显升高(P<0.05),cGHD组TG水平较nGHD明显升高(P<0.05),与pGHD组比较差异无统计学意义(P>0.05)。pGHD、nGHD组高TC、高LDL及高non-HDL的发生率明显低于cGHD组(P<0.05),nGHD组临界高LDL的发生率明显低于cGHD组(P<0.05)。而3组间TG、HDL的异常发生率及TC、TG...     

FISH deletion mapping defines a single location for the Y chromosome stature gene, GCY

At least 1 in 1000 males lacks part of the long arm of the Y chromosome. This chromosomal aberration is often associated with short stature and infertility. Deletion mapping and genotype-phenotype analysis have previously defined two non-overlapping critical regions for growth controlling gene(s), GCY(s), on the euchromatic portion of the Y chromosome long arm. These initial mapping assignments were based on the analysis of patients carrying a pure 46,XYq- karyotype as defined by classical cytogenetic karyotyping. Four genes have been assigned to the distal one of the two critical regions. To determine whether one or both of these two critical regions harbours GCY and whether one of the four genes assigned to the distal region is involved in determination of stature, nine adult patients with Yq chromosomal abnormalities were studied in detail. By PCR and FISH analysis, we showed that all patients with a previously defined pure 46,XYq- karyotype are actually mosaics with cells containing an idic(Y) or ring(Y) chromosome in association with 45,X0 cells. This leads us to conclude that (1) FISH is an absolute prerequisite for the correct identification of Y chromosomal rearrangements and (2) only patients with interstitial Y deletions are reliable predictors for the physical location of stature gene(s) on Yq. Our molecular analyses of chromosomes from patients with interstitial Yq deletions finally establishes the proximal interval between markers DYZ3 and DYS11 as the only GCY critical interval. No functional gene has so far been identified in this region adjacent to the centromere.