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The upper third of the face
Published in Jani van Loghem, Calcium Hydroxylapatite Soft Tissue Fillers, 2020
Frontal bossing is a male facial characteristic. Enhancing frontal bossing will make the patient look more masculine. The frontal bone in males has a more prominent ridge parallel to the orbital rim than in females. Therefore, the ideal depth of placement of CaHA is the periosteal level. Here, the subgaleal cannula technique will be explained. The major danger cone in this area is the neurovascular bundle ascending from the supraorbital foramen/notch. As the supraorbital artery is in tight tissue, close to the periosteum, possible intravascular events should be avoided. To minimize risk, do not force the cannula through any resistances in this area. See also Figure 6.1.
The Frontal Sinus
Published in John C Watkinson, Raymond W Clarke, Louise Jayne Clark, Adam J Donne, R James A England, Hisham M Mehanna, Gerald William McGarry, Sean Carrie, Basic Sciences Endocrine Surgery Rhinology, 2018
The condition usually presents between the 2nd and 4th decade and has a male preponderance. Most patients are asymptomatic but bony expansion can result in frontal bossing. Less common pressure-related symptoms include diplopia, headache or intra-cranial symptoms.
Metabolic and Hematological Bone Disease
Published in Harry Griffiths, Musculoskeletal Radiology, 2008
In the skull, there is increased thickness of the calvarium, as well as elongation and widening of the angle of the mandible, which in turn produces loss of the teeth. There is enlargement of the sinuses, particularly the frontal sinuses, which causes frontal “bossing.” There is also often hyperostosis of the occipital protuberance (Fig. 52).
A case of Costello syndrome diagnosed by trio whole exome sequencing
Published in Journal of Obstetrics and Gynaecology, 2022
Helen McDermott, Pallavi Karkhanis, Samantha Doyle, Harsha Gowda
Subsequent scans performed by Foetal Cardiologists demonstrated worsening cardiomegaly with biventricular hypertrophy and persistent tachycardia. There was foetal overgrowth (Figure 2) with moderate polyhydramnios and evidence of cervical shortening at 25 weeks’ gestation. The options of amniodrainage and medical treatment were discussed with the patient. The patient declined amniodrainage, and after a full course of antenatal corticosteroids to enhance foetal lung maturity, Sulindac® was commenced. Despite treatment, the patient had a spontaneous vaginal birth of a female baby at 27+4 weeks requiring resuscitation as per the Newborn Life Support algorithm. Clinical features can be found in Table 1, demonstrating overgrowth at birth and frontal bossing with low set ears.
Ocular Involvement in Muckle-Wells Syndrome
Published in Ocular Immunology and Inflammation, 2020
Sukru Cekic, Ozgur Yalcinbayir, Sara Sebnem Kilic
The median age of the patients was 21 years (range: 11–68 years) and the ratio of females/males was 1.25 (5/4). Almost all patients had a history of urticaria (88.8%) and arthritis (100%) exacerbated by cold exposure. The cold-triggered urticaria was observed only in the childhood period. Hearing loss was present in 5 patients (55.5%). Three patients had skeletal abnormalities of frontal bossing (33,3%) (Table 1). The diagnosis of MWS was based on clinical criteria proposed by Kuemmerle-Deschner et al. that include symptoms such as urticaria, arthritis, hearing loss, frontal bossing, autosomal-dominant inheritance pattern and response to treatment with interleukin (IL)-1 blockage.3 No mutations were detected in mediterranean fever gene (all exons), tumor necrosis factor receptor superfamily, member 1a (exons 2-to-7), mevalonate kinase (all exons), NLRP3 (all exons), NOD2 (exons 4, 8 and 9) and proline-serine-threonine phosphatase interacting protein 1 (exons 10 and 11) genes.
Lowe syndrome with extremely short stature: growth hormone deficiency may be the pathogeny
Published in Growth Factors, 2019
Chengjun Dai, Liying Wang, Youli Li, Zhichao Zheng, Jieqi Qian, Chaoban Wang, Zishuo Liu, Xiaoou Shan
The typical signs of the Lowe syndrome include congenital cataracts, mental retardation and proximal renal tubular dysfunction, as shown by our patients. In addition, it has been observed that patient SL-01 had deep-set eyes, which was identified as one of the facial dysmorphisms of the disease (Abdalla et al. 2018). Other facial features included frontal bossing and protruding ears. However, SL-02 and SL-03 exhibited no facial abnormalities. Up to now, more than 100 OCRL gene variations have been reported. Here we described a de novo novel mutation, the c.2290_2291delinsCT variation in exon 21 altered a glutamate into a leucine (p.E764L), which was likely to be pathogenic in accordance with ACMG guideline (PS2 + PM2 + PP4). As for the other two patients, the c.2581G > A (p.A861T) variation was reported to be pathogenic according to HGMD database.