Genetic analysis of the pinna of the human ear: sex differences in college age adults

Photographs of the left ears of 113 male and 197 female students of the University of Northern Colorado were taken using a 35mm camera with 50mm lens, small electronic flash, +4 close-up lens, and ASA 100 color film. Camera and flash attachment were mounted on a light metal frame positioning the camera 90 degrees to the head and a specific distance from the ear. Metric scale and counter were mounted so they were visible in the photograph. Eight vertical measures and eight horizontal measures were made, and 15 subjective-objective data taken. Means, variances, and interrelationships were determined. Mean height for males was approximately five inches greater than for females. Vertical measures were standardized by expressing ear/body height as a ratio. Three vertical measures--width of the superior helix, distance from superior helix to the edge of antihelix, and distance from antihelix to tip of the lobule--and three horizontal measures--width of the pinna, width of the posterior helix, and width of the notch--appear to be under specific genetic regulation in the two sexes.     

湖南土家族的体质特征

以20至69岁的湖南土家族人为观察测量对象,根据1392人(男896,女496)的身高,1038人(男668,女370)的头部测量,364人(男235,女129)的五官测量和观察结果,分析该民族的体质特征,并与国内其他民族相比较。     

Increased susceptibility to 6-aminonicotinamide-induced cleft lip of heterozygote Dancer mice

Dancer heterozygotes (Dc/+) very rarely have cleft lip and show a dancing behaviour due to inner ear defects while homozygotes (Dc/Dc) have cleft lip. Males of the two genotypes Dc/+ and +/+ were mated to C3H strain and R stock females and Dc/+ males to Dc/+ females. On day 10/8 of gestation females were treated with 6-aminonicotinamide (6AN) at either 19 mg/kg or 28.5 mg/kg followed 3 h later by a protective dose of nicotinamide. Controls were untreated. Both 6AN treatments caused a significant increase in cleft lip to between 25% and 29% for crosses of Dc/+ males to C3H and R females whereas crosses with +/+ males gave 0% cleft lip. In the controls the cleft lip frequency was: for Dc/+ X Dc/+ 14%, Dc/+ X C3H 1.4%, and for the other three crosses 0%. The four crosses given the high dose of 6AN and the +/+ X C3H and Dc/+ X R cross at the low dose showed significantly increased resorption rates to between 23% and 47% over the control rates of from 5% to 11%. The presence of the Dc gene increased the susceptibility to cleft lip caused by 6AN.     

Characteristics of the hearing loss in unilateral cleft lip and palate-influence on communication

Etiology of otitis media with effusion (OME) is still unclear and often described as multi-factorial. It is very usual finding in cleft palate population. We tested relationship between the hearing level, audiometric frequencies, aging and ear side in unilateral cleft lip and palate 101 children (UCLP) and subgroups of left (UCLP)(L) and right cleft side (UCLP)(R). Group of left ears is prone to higher frequency and more severe hearing disturbances than groups of right ears, with less chance of normalizing hearing level with aging. Characteristics of hearing loss level and its improvement, in UCLP children depend of cleft type, ear side and age group.     

Laterality patterns in infants with external birth defects.

The lateral distribution of external birth defects has not been reported in a comprehensive way, and patterns in this distribution have not been examined. This study presents the lateral distribution of 6,390 unilateral defects from among 102 defect categories in data collected by the Metropolitan Atlanta Congenital Defects Program. Among all defects, 49% (95% CI 48-51%) were right-sided. Among males and females, 51% (95% CI 50-53%) and 47% (95% CI 46-49%) of the defects, respectively, were right-sided. Of the 102 defect types, 57 had an excess of defects on the right side of the body; 39 had an excess of defects on the left side; and 6 were equally distributed. The excess on the right side was statistically significant for inguinal hernia, incarcerated inguinal hernia, microtia, preauricular sinus, talipes calcaneovalgus, and lambdoidal craniosynostosis. For the left side, the excess was statistically significant for preauricular tags, cleft lip, fused lip and cleft gum, cleft lip with cleft palate, congenital hip dysplasia, unstable hip, absent forearm or hand, anomaly of the knee, and skin tags. The percentage of right-sided defects among case subjects with unilateral defects was correlated with the percentage of males among all case subjects (r = 0.24, P < 0.05). Among male case subjects with unilateral defects, the correlation coefficient was 0.31 (P < 0. 01), and among females with unilateral defects, it was 0.11 (P > 0. 10). Differences in the lateral distribution of specific birth defects may be due to subtle differences in morphogenesis on the left and right sides of the embryo brought about by establishment of left-right asymmetry prior to organogenesis. The fact that more defect categories were right-sided than left-sided may be related to the observation that mitochondrial maturation in rat embryos is delayed on the right side. The right side, therefore, may be more susceptible than the left to defects caused by prenatal hypoxia. The significant correlation between the percentage right-sided and percentage male may then also be related to the observation that male sex hormones lower the mitochondrial respiration rate in rats and increase rat sensitivity to chemical hypoxia. Investigators should consider reporting the laterality of specific defects in both laboratory and epidemiological studies of birth defects. Right- and left-sided defects should perhaps be considered separately in etiologic studies of birth defects. Teratology 60:265-271, 1999. Published 1999 Wiley-Liss, Inc.     

The effects of unilamellar perichondrial dissection on the growth of rabbit ear cartilage

The effects of elevation of the perichondrium from a surface of growing ear cartilage were investigated in immature rabbits. Eight 21-day-old rabbits completed the study in which perichondrium was elevated from one cartilaginous surface of one ear and the nonoperated ear served as a control. By maturity, both ears had developed symmetrically and no statistically significant difference could be demonstrated in length and surface area. Although several ears demonstrated subtle shape changes, the overall growth and development of the surgically manipulated ear cartilages did not appear to be affected. These findings appear to contradict a widely held view that perichondrial dissection of developing cartilage has a high potential for subsequent growth disturbances. The corollary has been that cartilage manipulation, such as that required in the surgical repair of the cleft lip nose deformity, should be delayed until the growth of cartilage is complete. These data would support the findings of long-term clinical studies which demonstrate the efficacy of early limited perichondrial dissection in the correction of the cleft lip nose deformity.     

Genetic analysis in families with van der Woude syndrome

We have brought together information on 864 affected individuals in 164 families (including three new pedigrees) reported in the 137 year period since 1845 when Demarquay first described a family with what was later called van der Woude syndrome (VWS). Both types of oral cleft, cleft palate (CP) and cleft lip with or without CP (CLP), segregate in these families together with lower lip pits or fistulae in an autosomal dominant mode with high penetrance estimated to be K = .89 and .99 by different methods. Cleft types (CLP and CP) occur in VWS in the same proportions as in the general non-VWS population, ie, about twice as many cleft-bearing individuals have CLP as have CP. On the other hand, we do not find the usually observed excess of females with CP and excess of males with CLP; in VWS the sex ratios are more nearly equal. Lip pits also are equally distributed between the sexes. Affected males and females are equally likely to transmit VWS. However, there is an excess of less severely affected individuals among transmitters and a deficiency of more severely affected, brought about by a proband bias and differential fecundity. The expression of VWS is significantly modified by the genetic background: More extreme phenotypes in parents tend to produce more extreme expression in their children. For a VWS gene carrier the relative risk of transmitting a cleft is 26.45%; that of transmitting lower lip pits is 23.55%. Three pedigrees of lip pits in the literature show no clefts among a significant number of affected individuals. Control of gene expression in VWS in the three target tissues appears to be independent and separately designated. Mutation rate of the VWS gene is calculated to be 1.8 X 10(-5).     

External genitalia of the rat: normal development and the histogenesis of 5 alpha-reductase inhibitor-induced abnormalities

The normal histogenesis of the rat genital tubercle and the effect of exposure in utero to the 5 alpha-reductase inhibitor finasteride (L-652,931; MK-0906; Proscar) on that process were studied. In normal males and females, the genital tubercle was first seen on Day 14.25 of gestation. It contained a urethral plate which extended from the cloaca (and after Day 15.25, from the urogenital sinus) to the tip of the tubercle. On Day 18.25 the glans lamellae, which would separate the glans penis or the clitoris from the prepuce, began to develop in both sexes. Also on Day 18.25 a dense, midline plate of mesenchymal cells was first evident between the urogenital sinus and the rectum in normal males. This plate acted as a wedge, first increasing the separation between the rectum and the urogenital sinus, and subsequently separating the urethral plate from the surface epithelium in the genital tubercle. As a result, by Day 21.25 the urethra in males followed an "S"-shaped course, extending from the pelvis through the center of the glans penis to an orifice near the tip of the genital tubercle. In females, in which a mesenchymal plate did not develop, the urethral orifice remained at the base of the tubercle, and the clitoris contained the remnants of the urethral plate, extending as an open groove from the urethral orifice to the tip of the tubercle. Finasteride did not affect development of the genital tubercle in females. However, in males exposed to finasteride in utero, there was variable failure of the mesenchymal wedge to develop. As a result, the urethral plate remained in contact with the surface epithelium and eventually opened to form a groove on the ventral surface of the glans penis (hypospadias). Also, the persistence of the urethral plate along the ventral midline in finasteride-treated male fetuses and its subsequent opening as a groove interfered with development of the glans lamellae, causing displacement of the frenulum distally on the glans penis and the development of a cleft in the prepuce.     

Dermatoglyphic asymmetry in healthy and pathological subjects

The amount of asymmetry in various digital and palmar characters found in healthy and pathological individuals (presenting Cooley's anemia, cleft lip, cleft palate and breast cancer) was examined. Males with cleft palate presented higher asymmetry index values than did healthy males. No great differences were found in the other pathologies, while different behaviour in the two sexes was noted. Work supported by M.U.R.S.T. 60%     

Sexual Selection on a Coloured Ornament in King Penguins

Species in which the sexes equally exhibit colourful ornaments are an issue for evolutionary theory. Among several hypotheses, sexual selection for mutual mate choice and social selection for signals of behavioural dominance are most commonly supported. We examined the previously documented sex‐similar size of yellow‐orange ear patches in the king penguin, Aptenodytes patagonicus. This species is monogamous and pairs just before reproduction. Raising a chick requires considerable effort by both parents, as they alternate care of their single offspring with foraging at sea. The size of the ear patches appears to signal aggressive territoriality in the breeding colony for both sexes. However, experiments suggest that females prefer large patch size during mate choice, and males do not prefer this trait. We tested whether the size of the coloured ear patch was influenced by sexual selection for couples that had recently paired. We used analyses of covariance to compare the size of the ear patch to a measure of body size and then tested for the difference between males and females. Males were 6.2% larger in ear patch width and 7.7% larger in ear patch area than females, and the distance between the ear patches over the head was 7.5% smaller in males, with all differences highly significant. Consequently, sexual selection appears to favour larger ear patches in males, possibly because of an excess of males that promotes female choice. Social selection also appears to favour the evolutionary maintenance of ear patches of males, and thus both types of selection may contribute to enlarged ear patches.     

Male rhytidectomy incisions

Because the preauricular segment of a face lift incision is less noticeable when located behind the tragus, it is our preferred method in females. The desirability of preserving the normal hairless strip between the ear and sideburn precluded using the technique in males. In this report we describe a method of utilizing the retrotragal location in males. This has been accomplished by direct excision of the hair follicles and hair shafts.     

A comparison of the craniofacial morphology in 2-month-old unoperated infants with unilateral complete cleft lip and palate, and unilateral incomplete cleft lip.

This paper reports a cephalometric analysis of the craniofacial morphology in infants with unoperated unilateral complete cleft lip and palate (UCCLP) and unoperated unilateral incomplete cleft lip (UICL). The purpose of the study was to determine the nature and extent of the craniofacial deviations in UCCLP as compared to the morphology in UICL, which has previously been shown to be close to normal. The samples comprised 82 infants with UCCLP (58 males and 24 females) and 75 with UICL (48 males and 27 females). The mean age was about 2 months in both groups. The cephalometric analysis of craniofacial morphology included the lateral, frontal, and axial projections. The data were presented as mean plots of the craniofacial region including the calvaria, cranial base, orbits, nasal bone, maxilla, mandible, cervical column, pharynx, and soft-tissue profile. The most pronounced deviations in the UCCLP group were observed in the maxillary complex and the mandible. The most striking findings were: markedly increased width of the maxilla, a short mandible, and bimaxillary retrognathia except for the premaxillary area, which was relatively protruding and asymmetric. The study did not support the hypothesis previously suggested in the literature that cleft lip and palate is a craniofacial anomaly as size and shape of the calvaria and cranial base were found to be normal. The etiology of cleft lip and palate is still incompletely understood. Based on the present study, we suggest that facial type may be a liability factor that could represent a developmental threshold increasing the probability of cleft lip and palate.     

The inguinal region: anatomic differences in men and women with reference to hernia formation

Fifty inguinal regions were dissected in anatomic human adult specimens, of which 26 were males and 24 females. The comparison of anatomic variations in both sexes showed that the distance between the public tubercle and the internal ring was larger, and the rectus muscle significantly wider in females. The diameter of the internal ring was larger in males, however, with significant variability. No differences were found regarding the presence or absence of the conjoint tendon. The anatomic variations may explain the sex differences in hernia formation.     

中国克木人的体质特征

本文调查了我国克木人285例(男为141例,女为144例)的体质特征,计算出9项观察项目的出现率,58项测量项目的均数和标准差、31项指数值和分型情况,并与我国31个群体的体质特征进行了比较,得出我国克木人的体质特征为:蒙古褶出现率低,男为31.21%,女为32.64%;上眼睑皱褶出现率高,男为90.33%,女为93.75%;鼻根高度中等型出现率最高,男为65.96%,女为47.22%;鼻翼高度多为中等;耳垂多为三角型;上唇皮肤部高度多为中等型;发色多为黑色;眼色多为褐色;肤色多为黄色;圆头型、高头型、阔头型、狭鼻型、中躯干型、中胸型出现率最高;男性狭面型、亚长腿型、宽肩型、中骨盆型出现率最高;女性的阔面型、中腿型、中肩型、宽骨盆型出现率最高;男性身高均数为160.2cm,女身高均数为151.5cm,属亚中等身材;克木人男性与女性均具有生活在我国南方的人群的体质特征。     

The Roberts' syndrome

Summary A report is given on a small-for-date male infant showing the following symptoms: bilateral aplasia of humerus, radius, and ulna, shortened femora, bilateral cleft lip and cleft palate, stigmata of dysmorphism, and notably; simple helix formation of the ear, simian crease, clinodactylia, bilateral clubfoot deformity, hypospadia, thrombocytopenia, micrognathia, and contractures in the knee joints.Postmortem autopsy revealed horseshoe kidney, ureterstenosis with hydronephrosis, persistent branchial arches, and absence of the knee joints.Chromosome analysis results performed by G-band technique turned out normal. This, obviously, was a case of the so-called Roberts' syndrome. Our results were compared with the relevant literature and some particularities were especially emphasized. The question was discussed as to whether the SC-phocomelia (pseudothalidomid syndrome), the TAR syndrome, and reported single cases might be an identical syndrome.     

Cleft lip: unilateral primary deformities

The understanding and management of all aspects of unilateral cleft lip deformities continue to evolve. Just as we are entering the era of exciting advances in the understanding of the pathogenesis of craniofacial disorders, expansion of our understanding of the dynamic relationships of the structural and soft-tissue components of cleft deformities has assisted surgeons in achieving progressively improved and consistent outcomes for these patients. The anatomic and physiologic complexity of unilateral cleft lip deformities has been recognized for centuries, and generations of researchers have cumulatively contributed to our current understanding. This article examines the history, classification, anatomy, and controversies in the surgical management of unilateral cleft lip deformities, allowing surgeons to formulate a reasoned, longitudinal management plan for their patients on the basis of the available current data.     

贵州"过卯"水族的体质人类学研究

本文对贵州三都水族自治县“过卯”水族462人(男238,女224)进行了活体观察和测量。观察项目28个,测量项目64个。调查对象年龄20—55岁,三代均为“过卯”水族。分析结果表明:“过卯”水族属圆头型;男性狭面型,女性中面型;阔鼻型;宽手型,窄肩型,中腿型;男性瘦长体型,女性中间体型;男性亚中等,女性矮型身材。与我国南方其他24个少数民族群体聚类分析,结果显示“过卯”水族体质特征与湖南侗族、白裤瑶、贵州毛南族接近。贵州“过卯”水族属蒙古人种南亚类型,具有现代黄种人的容貌特征。     

贵州布依族体质人类学研究

本文对773名(男379人,女394人)生活在贵州的布依族进行活体观察和测量(观察项目28个,测量项目64个)。调查对象年龄20—55岁三代均为布依族。分析结果表明:布依族中头型多见;男性多为中面型,女性以阔面型为主;属阔鼻型;亚中等偏矮型身材。布依族与我国南方其他29个民族群体10项头面部体部测量数据聚类分析,结果显示布依族的体质特征与广西壮族、海南黎族最为接近,与湖南土家族、瑶族、贵州苗族、广西彝族次之,与湖南侗族、贵州毛南族、白裤瑶较远。布依族属蒙古人种南亚类型,具有现代黄种人的容貌特征。     

Exposure of Cleft Lip and Palate Patients to Toxic Elements Released during Orthodontic Treatment in the Study of Non-Invasive Matrices

The Objective

The aim of the study was evaluation of metal ions (nickel and chromium) released from orthodontic appliances in cleft lip and palate patients and the usefulness of non-invasive matrices (saliva and hair).

Materials and Methods

The material studied consisted of 100 individuals, including 59 females and 41 males of 5 to 16 years of age, which were divided into 3 groups: experimental–patients with cleft lip and palate (36 individuals, the average treatment time 5.74 years); control group–patients without cleft lip and palate, during orthodontic treatment (32 individuals, the average treatment time 1.78 years) and the control group patients without cleft lip and palate, without any orthodontic appliances (32 individuals). Samples (saliva, hair) were collected and subjects underwent a survey by questionnaire. Multi-elemental analyses of the composition of non-invasive matrices was conducted in an accredited laboratory by inductively coupled plasma spectrometry technique ICP-OES. The results were reported as mean contents of particular elements (Cd, Cr, Cu, Fe, Mn, Mo, Ni, Si) in hair and in saliva.

Results

The concentration of Cr, Ni, Fe and Cu ions in saliva of cleft lip and palate patients were several times higher as compared with not treated orthodontically control groups and higher than in the group with orthodontic appliances. Among the assessed matrices, hair of cleft lip and palate patients seem to be not a meaningful biomarker.

Conclusion

It was found that orthodontic appliances used in long-term treatment of cleft lip and palate patients do not release toxic levels of Cr and Ni ions.     

Fragile X chromosome and X-linked mental retardation.

A family is described in which three normal females transmitted to seven males X-linked mental retardation associated with macro-orchidism and a fragile site on the long arm of the X chromosome -- fra(X)(q27). The affected males also had minor clinical features in common: a large forehead, long face, large ears, a long upper lip and large extremities.