A Case of Inherited t(4;10)(q26;q26.2) Chromosomal Translocation Elucidated by Multiple Chromosomal and Molecular Analyses. Case Report and Review of the Literature

We present a complex chromosomal anomaly identified using cytogenetic and molecular methods. The child was diagnosed during the neonatal period with a multiple congenital anomalies syndrome characterized by: flattened occipital region; slight turricephaly; tall and broad forehead; hypertelorism; deep-set eyes; down slanting and short palpebral fissures; epicanthic folds; prominent nose with wide root and bulbous tip; microstomia; micro-retrognathia, large, short philtrum with prominent reliefs; low set, prominent ears; and congenital heart disease. The GTG banding karyotype showed a 46,XY,der(10)(10pter→10q26.2::4q26→4qter) chromosomal formula and his mother presented an apparently balanced reciprocal translocation: 46,XX,t(4;10)(q26;q26.2). The chromosomal anomalies of the child were confirmed by MLPA, and supplementary investigation discovered a quadruplication of the 4q35.2 region. The mother has a triplication of the same chromosomal fragment (4q35.2). Using array-CGH, we described the anomalies completely. Thus, the boy has a 71,057 kb triplication of the 4q26–q35.2 region, a 562 kb microdeletion in the 10q26.3 region, and a 795 kb quadruplication of the 4q35.2 region, while the mother presents a 795 kb triplication of the 4q35.2 region. Analyzing these data, we consider that the boy’s phenotype is influenced only by the 4q partial trisomy. We compare our case with similar cases, and we review the literature data.

Nasal Analysis of Classic Animated Movie Villains versus Hero Counterparts

Opposing facial features between animated villains and heroes have historically been used to demonstrate contrasting morality between characters, and this could have an impact on how humans view someone as good or evil in everyday life. Studies have been done investigating classic dermatologic features of villainous characters. This principle can be applied to nasal features as well. A search for “top animated characters” was performed. Characters were chosen from American Film Institute's “The Top Tens,” Rolling Stone's “25 Best Pixar Movie Characters,” and Screenrant's “The 30 Best Animated Movie Characters of All Time.” Twenty villains and twenty hero counterparts from respective films were chosen. Classic nasal features were analyzed. Twenty villains (14 male, 6 female) and 20 heroes (12 male, 8 female) were analyzed. Sixteen villains (80%) had greater than normal nasal frontal angle versus 18 heroes (90%). Thirteen villains (65%) had an acute nasolabial angle versus two heroes (10%). Two villains (10%) had excess columellar show versus seven heroes (35%). Seven villains (35%) and one hero (5%) had a dorsal hump. Twelve villains (60%) had an overprojected chin versus three heroes (15%). Villains in pre-2000s films more frequently had a dorsal hump, overprojected chin, ptotic tip, pollybeak deformity, and bulbous tip. Heroes in pre-2000s films more frequently had an overrotated tip. Villains and heroes commonly have a greater than normal nasofrontal angle. Villains more commonly have an acute nasolabial angle, underrotated tip, overprojected chin, dorsal hump, and pollybeak deformity. Heroes more commonly have a large nasolabial angle and overrotated tip. Further research in conjunction with psychologists is required to obtain concrete data on how this affects whether an individual in real life is seen as good or evil, and the impact this has on interactions in society, including in the medical field.

Basic Techniques in Septorhinoplasty

Indications for septorhinoplasty include both cosmetic and/or functional issues. Common cosmetic complaints include a hump, bulbous tip, wide dorsum and/or base, plunging tip, and asymmetry. Functional issues can be due to the nasal septum and turbinates as well as to the internal and external nasal valves. During initial assessment, it is very important for the plastic surgeon to discuss the patient’s individual wishes and concerns. Realistic expectations are paramount. This chapter will discuss the basic aspects of septorhinoplasty including preoperative analysis, surgical planning and operative technique.

External rhinoplasty in post rhinoscleromatous bulbous Nose

A 22-year-old male presented to outpatient department with the complaint of widened nasal tip. He was a known case of rhinoscleroma diagnosed five years ago and had taken treatment for the same for one year. He has been asymptomatic since then. On clinical examination the patient had widening of the dorsum of the nose with a bulbous nasal tip. Anterior rhinoscopy was within normal limits. Rhinoplasty was done and the patient had an improvement in his cosmetic appearance. This is one of unique cases of rhinoplasty on bulbous tip due to rhinoscleroma. DOI: http://dx.doi.org/10.3329/bjo.v19i1.11604 Bangladesh J Otorhinolaryngol 2013; 19(1): 69-72