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Follow-up study in a patient with Setleis syndrome.

We report on an 8-year-old Japanese boy with Setleis syndrome. The patient had a very characteristic "coarse" facial appearance, bitemporal "forceps marks," skin aplasia, sparse hair, and skin hypo- and hyperpigmentation. He also had previously undescribed manifestations, including an aberrant hair pattern of the forehead, linear skin lesions on the forehead, short palpebral fissures, a small skin tag on the right cheek, cone-shaped teeth, and pectus carinatum. Dermatoglyphic studies documented aberrant distal palmar creases (simian crease variant), 8 arches, and reduced total finger ridge count. When serial photographs were reviewed, his facial characteristics became more obvious with increasing age.

Child↗

Trisomy 1q42 --> qter in a sister and brother: further delineation of the "trisomy 1q42 --> qter syndrome".

We report on a 22-year-old woman and her 21-year-old brother with mild mental retardation, long face, prominent forehead, retrognathia, and (relative) macrocephaly. At birth they were small for date, their length is now below the 10th centile. Chromosome analysis demonstrated a nearly pure trisomy 1q42 --> qter in both patients due to unbalanced segregation of a paternal reciprocal balanced translocation 46,XY,t(1;15) (q42;p11). This is the second report of a nearly pure trisomy 1q42 --> qter. When comparing the manifestations of our patients with those of other reported cases we conclude that the most characteristic clinical manifestations of this syndrome are macrocephaly, prominent forehead, micro/retrognathia, large fontanelle, intrauterine growth retardation, postnatal growth retardation, and mental retardation.

Adult↗

A girl with inverted triplication of chromosome 3q25.3 --> q29 and multiple congenital anomalies consistent with 3q duplication syndrome.

We report a newborn girl with intrachromosomal triplication of 3q25.3 --> q29 (mosaicism) who died at the age of 3.5 weeks due to her malformations. She demonstrated disproportionate short stature with short limbs, a prominent and hairy forehead, thick eyebrows, synophrys, small upturned nose, full cheeks, micrognathia, and low set malformed and posteriorly rotated ears, short and webbed neck, hydrocephalus, Dandy-Walker malformation, spina bifida, complex heart defect (ventricular and atrial septal defect, malrotation, and interrupted aortic arch), omphalocele, polycystic kidneys, postaxial polydactyly of left hand, and generalized hirsutism; all signs have been associated with the dup(3q) syndrome previously. The facial appearance (hairy forehead, thick eyebrows, synophrys, small upturned nose, full cheeks, micrognathia, low set malformed and posteriorly rotated ears) showed resemblance to the Brachmann-de Lange syndrome (BDLS), but the patient did not fulfill the diagnostic criteria for BDLS. There has been only one report of a direct triplication of chromosome 3 until now, but in our case the triplicated area is larger, located more proximally, and includes the hypothetical BDLS critical gene region-CDL1. Our findings lend support to distal chromosome 3q, or chromosome 3q26.3, comprises the critical area for the dup(3q) phenotype resembling the BDLS.

Abnormalities, Multiple↗

Atrioventricular block and wiry hair in Teebi hypertelorism syndrome.

We report on a 4 1/2-year-old girl with clinical features of Teebi hypertelorism syndrome (THS), including a prominent forehead with a widow's peak, heavy and broad eyebrows, hypertelorism, long palpebral fissures, ptosis, a thin upper lip, a grooved chin, and a left preauricular cyst. She required a pacemaker for third degree atrioventricular (AV) block, a finding that has not been previously reported in 36 other patients with THS and for which we were unable to identify other causes. We have reviewed the previous reports of THS and note a characteristic facial appearance with hypertelorism, heavy, broad, and arched eyebrows, a thin upper lip with a long and deep philtrum, and a prominent forehead. Structural cardiac defects were present in five patients, implying that cardiac investigations are warranted in patients with a cardiac murmur and a clinical diagnosis of THS.

Abnormalities, Multiple↗

Molecular characterization of partial trisomy 16q24.1-qter: clinical report and review of the literature.

We describe a 3(1/2)-year-old girl with psychomotor and mental retardation; dysmorphic features, including a high forehead with bitemporal narrowing; a broad nasal bridge and a broadened nose; downslanting palpebral fissures; abnormal ears; vertebral abnormalities; cardiac defect; genital hypoplasia; and anal abnormalities. The karyotype of our patient (550 bands) was normal. Molecular cytogenetic techniques, including comparative genomic hybridization (CGH) and fluorescence in situ hybridization (FISH), revealed that this girl was a carrier of a de novo derivative chromosome 7 arising from a cryptic t(7;16)(p22.3;q24.1) translocation generating a trisomy 16q24.1-qter and a 7p22.3-pter deletion. FISH with a series of specific chromosome 7p and 16q probes allowed us to delineate the chromosome 7 breakpoint between YAC660G6 (WD7S517) and YAC848A12 (D7S521, D7S31, and WI-4829) and the chromosome 16 breakpoint between BAC457K7 (D42053) and BAC44201 (SGC30711). The comparison of the clinical features of our patient with those of 2 cases of pure terminal 7p deletion and 28 cases of trisomy 16q reported in the literature allowed us to establish the following phenotype-genotype correlation for trisomy of the long arm of chromosome 16: distinctive facies (high/prominent forehead, bitemporal narrowing, periorbital edema in the neonatal period); severe mental retardation; vertebral, genital, and anal abnormalities to 16q24; distal joint contractures and camptodactyly to 16q23; cleft palate and renal anomalies to 16q22; beaked nose and gall bladder agenesis to 16q21; gut malrotation; lung and liver anomalies to 16q13; and behavior abnormalities to band 16q11-q13.

Abnormalities, Multiple↗

Growth and aging of facial soft tissues: A computerized three-dimensional mesh diagram analysis.

The normal growth, development, and aging of facial soft tissues was studied by three-dimensional (3D) computerized mesh diagram analysis. The 3D coordinates of 50 soft-tissue landmarks were collected from 591 healthy white northern Italians (351 males, 240 females) 6-40 years of age. For each gender and age class, mean values were computed, and a standardized mesh of equidistant horizontal, vertical, and anterior-posterior lines was constructed. Within each age group, male meshes were superimposed on female meshes. For each gender, the 6-year-old reference mesh was superimposed on the reference mesh of each age group. The global (size plus shape) difference was evaluated by calculating the relevant displacement vectors for each landmark. Consequently, a size normalization was carried out and the shape difference was evaluated by calculating new relevant displacement vectors for each landmark. Growth and development were different along the three spatial planes: the largest increment was observed in the vertical dimension, with major modifications in the soft-tissue profile. The vertical dimension in males increased even after 30 years of age: ear dimensions increased, trichion moved superiorly and posteriorly, and pogonion, menton, and gonion moved anteriorly and inferiorly. In all age groups, size-standardized shape differences were found in the forehead, lower-third facial profile, eyes, cheeks, and ears. In each age class, male dimensions were larger than female dimensions. During childhood, gender differences in size were limited; shape differences were even less manifest. Overall, the profile was more anterior and inferior, the gonia were more inferior and more lateral, the forehead was more anterior, and the ears were larger in males than in females of corresponding age.

Adolescent↗

Nasofacial defect following fibrosarcoma excision and radiotherapy.

For initial reconstruction, Dr. Burget suggests that he would have advanced the cheek flap medially toward the nasal septum and, subsequently, reconstructed the missing right half of the nose with a forehead flap and cartilage grafts. Dr. Panje suggested early prosthetic rehabilitation, while Dr. Krause's concepts were similar to Dr. Burget's, with forehead flap nasal reconstruction, after cheek reconstruction to the nasofacial and nasolabial lines with a medially advanced cheek flap. Dr. Panje recommended an immediate maxillary denture prosthesis, as did Dr. Krause (who supplemented this with foam rubber). Dr. Burget placed the prosthesis 3 weeks after tumor ablation. For skin grafts, Drs. Panje and Burget suggested split thickness grafts to all new surfaces to decrease wound contracture, while Dr. Krause used dermis grafts for the same purpose. Other reconstructive methods mentioned were the (1) cervical tubed flap, (2) free scapular flap, (3) Washio flap, (4) tissue expansion, and (5) nasolabial flap. Suggestions for isolated defects included: Lower eyelid--increase internal support by building up the prosthesis; release lower lid from deltopectoral flap and V-Y advancement; support graft or irradiated cartilage (1-2 mm sheet) under orbicularis oculi. Nasal ala--bring present ala down and insert cartilage graft; turn internal skin down and fill the resulting defect with a composite graft. Upper lip--multiple Z-plasty. Retrodisplacement of cheek due to maxillectomy--release buccal scar; skin graft the raw internal surface and build up prosthesis.

Adult↗

In vivo percutaneous penetration of some organic compounds related to anatomic site in humans: predictive assessment by the stripping method.

The effect of anatomic site on the in vivo relationship between the total penetration of four compounds and the amount of the compounds present in the stratum corneum at the end of application was studied in humans. For each anatomic site, 1,000 nmol of 14C-radiolabeled benzoic acid, benzoic acid sodium salt, caffeine, or acetylsalicylic acid was applied to 1-cm2 area of skin of male Caucasian patients aged 28 +/- 2 years (groups of 6-8). For each molecule and each site, a first application on the right-hand side of the body allowed total absorption to be determined by measuring the amount excreted in the urine. A second application, performed 48 h later on the contralateral site, enabled the total amount of substance present in the stratum corneum at the end of application (30 min) to be assessed after cellophane-tape stripping of the treated area. The results showed that skin permeability varied substantially, depending both on the physicochemical nature of the molecule and on the anatomical location. In general, the rank order in skin permeability of the studied areas appears to be as follows: arm less than or equal to abdomen less than postauricular less than forehead. Whatever the compound applied, the forehead was approximately 2 times as permeable as the arm or abdomen. Independent of the origin of the differences in permeability observed among sites, there exists a linear correlation (r = 0.97, p less than 0.001) between the amounts of substance present in the stratum corneum at the end of application (30 min) and the total amounts which penetrated within a 4-d period.(ABSTRACT TRUNCATED AT 250 WORDS)

Adult↗

Badge size in collared flycatchers predicts outcome of male competition over territories

The evolution of conspicuous coloration is often hypothesized to be driven by sexual selection, where colour traits may function as honest signals of individual abilities in male contest competition and female choice. However, game theory models suggest that colourful badges (i.e. energetically cheap signals) may have no function in sexually selected contests, because the value of the contested resource is too high relative to the costs of fighting. We investigated this assertion by experimentally staging male contests over nest sites (a crucial resource for attracting females) in old (>/=2 years) male collared flycatchers, Ficedula albicollisMales with a relatively large white forehead patch (i.e. a condition-dependent plumage trait displayed in male contests) enjoyed a competitive advantage in disputes over experimentally vacated territories. No other measured morphological variable predicted the outcome of such a dispute. Furthermore, the winners of the disputes acquired a female more quickly than did the losers. Thus, our results suggest that the white forehead patch of male collared flycatchers may function as a badge of status that is also used in sexually selected contests over resources. We suggest that this is because the value of the contested territory may be relatively low compared with the cost of fighting when alternative vacant sites exist in the neighbourhood.Copyright 1997 The Association for the Study of Animal Behaviour1997The Association for the Study of Animal Behaviour

Journal Article↗

Sexual selection resulting from extrapair paternity in collared flycatchers.

Extrapair paternity has been suggested to represent a potentially important source of sexual selection on male secondary sexual characters, particularly in birds with predominantly socially monogamous mating systems. However, relatively few studies have demonstrated sexual selection within single species by this mechanism, and there have been few attempts to assess the importance of extrapair paternity in relation to other mechanisms of sexual selection. We report estimates of sexual selection gradients on male secondary sexual plumage characters resulting from extrapair paternity in the collared flycatcher Ficedula albicollis, and compare the importance of this form of sexual selection with that resulting from variation in mate fecundity. Microsatellite genotyping revealed that 15% of nestlings, distributed nonrandomly among 33% of broods (N=79), were the result of extrapair copulations. Multivariate selection analyses revealed significant positive directional sexual selection on two uncorrelated secondary sexual characters in males (forehead and wing patch size) when fledgling number was used as the measure of fitness. When number of offspring recruiting to the breeding population was used as the measure of male fitness, selection on these traits appeared to be directional and stabilizing, respectively. Pairwise comparisons of cuckolded and cuckolding males revealed that males that sired young through extrapair copulations had wider forehead patches, and were paired to females that bred earlier, than the males that they cuckolded. Path analysis was used to partition selection on these traits into pathways via mate fecundity and sperm competition, and suggested that the sperm competition pathway accounted for between 64 and 90% of the total sexual selection via the two paths. The selection revealed in these analyses is relatively weak in comparison with many other measures of selection in natural populations. We offer some explanations for the relatively weak selection detected. Copyright 1999 The Association for the Study of Animal Behaviour.

Journal Article↗

Hydrodynamic interaction between spheres coated with deformable thin liquid films.

In this article, we considered the hydrodynamic interaction between two unequal spheres coated with thin deformable liquids in the asymptotic lubrication regime. This problem is a prototype model for drop coalescence through the so-called "film drainage" mechanism, in which the hydrodynamic contribution comes dominantly from the lubrication region apart from the van der Waals interaction force. First, a general formulation was derived for two unequal coated spheres that experienced a head-to-head collision at a very close proximity. The resulting set of the evolution equations for the deforming film shapes and stress distributions was solved numerically. The film shapes and hydrodynamic interaction forces were determined as functions of the separation distance, film thickness, viscosity ratios, and capillary numbers. The results show that as the two spheres approach each other, the films begin to flatten and eventually to form negative curvature (or a broad dimple) at their forehead areas in which high lubrication pressure is formed. The dimple formation occurs earlier as the capillary number increases. For large capillary numbers, the film liquids are drained out from their forehead areas and the coated liquid films rupture before the two films "touch" each other. Meanwhile, for small capillary numbers, the gap liquid is drained out first and the two liquid films eventually coalesce.

Journal Article↗

Application of computer taxonomic techniques to the study of cutaneous propionibacteria and skin-surface lipid.

Colonisation of the forehead by propionibacteria and the composition of both free fatty acid and fatty acid of the triglyceride fraction of skin-surface lipid were studied, and the results were analysed using numerical taxonomic techniques. The density and prevalence of propionibacteria increased with age in a population of 230 children aged 5-18 years. The fatty-acid composition of casual sebum on the forehead changed with age, suggesting that the prevalence and density of organisms may be related to lipid composition. Cluster-analysis techniques revealed groups of individuals who resembled each other with respect to their triglyceride and free-fatty-acid profiles. These groups tended to consist of subjects who were of a similar age and maturity, and who were similarly colonised with propionibacteria. However, no relationship was evident between the composition of lipid and clinical acne.

Adolescent↗

Safety and efficacy of combined upper blepharoplasties and open coronal browlift: a consecutive series of 600 patients.

Surgical rejuvenation of the upper face involves the correction of excess and lax forehead, eyelid, and periorbital skin. Improving the appearance by correcting the effects of aging involves a combination of blepharoplasty and open coronal foreheadplasty. Many surgeons and several reports question the safety of both procedures being performed concomitantly. The difficulty arises in precisely balancing the skin excision from the frontal forehead and upper eyelid areas. Over-resection of skin may result in incomplete closure of the eyelid and dry-eye syndrome, while an inadequate resection may produce a poor aesthetic result. There is no large series that documents the safety and effectiveness of these two procedures being performed concomitantly. Furthermore, with the recent and rapid development of complex multiplanar endoscopic facial rejuvenation techniques, the basic open foreheadplasty has become increasingly overlooked as a legitimate, efficacious technique for rejuvenation of the upper face. The technique utilized in this series is presented in detail. The consistently excellent results obtained satisfy the aesthetic goals of patients as well as the goals of surgeons, and suggest a renewed interest in the technique based upon its simplicity and easily reproducible results.

Eyebrows↗

The fiber endoscope with guidable and flexible working instruments for endofacelift: a new instrument in facial surgery.

The use of endoscopic video-assisted technique in facial rejuvenation is one of the most recent advances in aesthetic plastic surgery of the face. It replaces the bicoronal incision without the necessity of skin resection. The idea is to detach the muscles from the periorbital attachment, forcing the occipital muscle to pull the forehead tissue back and thus elevating the eyebrows. Therefore, we developed a flexible fiber endoscope that allows the surgeon to guide flexible instruments through its working channel. The endoscope is introduced through a 1-cm midscalp incision so that it can be used to expose and treat soft tissue regions in the forehead, the midface, and the neck.

Endoscopes↗

Regional variation in percutaneous absorption in man: measurement by the stripping method.

The influence of anatomic site on the relationship between total penetration of a molecule and its quantities present in the stratum corneum (SC) 30 min after application was quantified in an in vivo study. For each site, six male volunteers received two symmetrical applications of 1,000 nmol benzoic acid 14C to an area of 1 cm2 for 30 min. The first application permitted measurement of total absorption of benzoic acid within 4 days (urinary excretion method), while the second enabled determination of the quantity of benzoic acid in the SC at the end of the application time. Total penetration according to site is: back less than arm less than chest less than thigh less than abdomen less than forehead, (with the forehead being three times more permeable than the back). Whatever the sites and the origin of the differences observed, the results show that the single measurement of the amounts of a compound present in the SC at 30 min postapplication appears sufficient to predict its total penetration, these two parameters being linearly correlated (r = 0.97, P less than 0.001).

Adult↗

Effect of topical application of dexamethasone on Propionibacteria in the pilosebaceous duct.

A preparation of dexamethasone 0.02% in Eutanol G (n octyldodecanol) was applied once daily for three weeks, to the right side of the forehead of 25 male healthy test subjects. Eutanol G without dexamethasone was applied in the same way to the left side of the forehead. Before and at the end of the treatment period bacteria were removed from the pilo-sebaceous ducts by the method of Holland et al. [8]. Bacteria that grew under anaerobic conditions were evaluated quantitatively. Dexamethasone induced a significant increase in P. acnes, in all Propionibacteria and in the total bacterial count. The importance of these findings is discussed in relation to the development of steroid acne.

Administration, Topical↗

Effect of local cooling on sweating rate and cold sensation.

Subjects resting in a 39 degrees C environment were stimulated in different skin regions with a water cooled thermode. This local cooling produced decreases in sweating rate measured at the thigh and increases in magnitude estimates of the cold sensation. The are of cold stimulation varied from 111 cm2 to 384 cm2. Sensitivity coefficients of the changes in sweating rate and magnitude estimate were corrected for differences in size of the area of stimulation and change in skin temperature and were normalized to the responses of the chest. The normalized coefficients showed the following relative sensitivities for changes in sweat rate and magnitude estimate respectively: forehead 3.3, 2.2; back 1.2, 1.4; lower leg 1.1, 0.9; chest 1.0, 1.0; thigh 0.9, 1.0; abdomen 0.8, 0.8. Varying the area stimulated from 122 cm2 to 384 cm2 produced greater changes in the sweating response than in the magnitude estimate. Rate of skin cooling during the period of stimulation had more effect on the sweating response than on the magnitude estimate. We conclude that cooling different body regions produces generally equivalent changes in the sweat rate and sensation, with the forehead showing a much greater sensitivity per unit area and temperature decrease than other areas.

Abdomen↗

Fluid distribution and tissue thickness changes in 29 men during 1 week at moderate altitude (2,315 m).

To quantify fluid distribution at a moderate altitude (2,315 m) 29 male subjects were studied with respect to tissue thickness changes [front (forehead), sternum, tibia], changes of total body water, changes of plasma volume, total protein concentrations (TPC), colloid osmotic pressure (COP), and electrolytes. Tissue thickness at the forehead showed a significant increase from 4.14 mm to 4.41 mm 48 h after ascent to the Rudolfshuette (2,315 m) (P < 0.05). At 96 h after ascent the tissue thickness at the tibia was decreased to 1.33 mm compared to the control value of 1.59 mm (P < 0.01). Body mass increased from 75.5 kg (control) to 76.2 kg on the last day (P < 0.05) and body water from 44.21 to 45.01 during the week (P < 0.01). The accumulation fluid in the upper part of the body was paralleled by a decrease in TPC and COP. At 48 h after the ascent COP dropped from 29.5 mmHg to 27.5 mmHg (P < 0.01). After 96 h at moderate altitude COP was still significantly decreased compared to the control level. At 1.5 h after the return from the Rudolf-shuette in Saalfelden (744 m) COP was back to the control values. The TPC also showed an initial drop from 7.75 g.dl-1 to 7.48 g.dl-1 after 48 h at altitude and remained below the control value during the whole week (P < 0.01). It seems from our study that even with exposure to moderate altitude measurable fluid shifts to the upper part of the body occurred which were detected by our ultrasound method.

Acclimatization↗