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Paper 2
Published in Aalia Khan, Ramsey Jabbour, Almas Rehman, nMRCGP Applied Knowledge Test Study Guide, 2021
Aalia Khan, Ramsey Jabbour, Almas Rehman
Down’s syndrome (Trisomy 21) sufferers display typical facies, e.g. eyes that slant upwards with prominent epicanthic folds, a flat occiput, a flat bridge of the nose, abundant neck skin and dysplastic ears. Other features include a protruding tongue, single palmer crease, incurved fifth finger and Brushfield spots in the iris. Associated medical problems include learning difficulties and Alzheimer’s dementia, hypo thy roi dism, congenital heart defects such as atrial/ventricular septal defects, and gastrointestinal congenital malformations such as duodenal atresia.
Down's Syndrome
Published in K. Gupta, P. Carmichael, A. Zumla, 100 Short Cases for the MRCP, 2020
K. Gupta, P. Carmichael, A. Zumla
This gentleman has certain characteristic physical stigmata, such as a small stature with a round small head, epicanthic folds, upward and outward slanting palpebral fissures, low set oval ears, short inturning little fingers (clinodactyly), a transverse palmar crease (simian), and an enlarged deeply fissured tongue which is all in keeping with a diagnosis of Down's syndrome. (Don't ever say Mongolism which is a term not looked upon favourably and now obsolete.)
Aesthetic Regions of the Face
Published in Ali Pirayesh, Dario Bertossi, Izolda Heydenrych, Aesthetic Facial Anatomy Essentials for Injections, 2020
Alessandro Gualdi, Michele Pascali, Heidi A. Waldorf, Rene van der Hulst, Philippe Magistretti, Dario Bertossi
The periorbital region is the area demonstrating the most pronounced age and ethnic variation. In African skulls, the orbits are wider and more rectangular, and demonstrate earlier onset of bone resorption. The scant subcutaneous fat and protruded superior orbital margin causes a hollow-eyed look due to significant retraction of the periorbital tissues. Although the bone structure in Asian patients is similar to Caucasians, the tendon structure differs and the upper eyelid forms an epicanthic fold.
Eye Abnormalities in Children with Fetal Alcohol Spectrum Disorders: A Systematic Review
Published in Ophthalmic Epidemiology, 2023
Tracey W Tsang, Amy Finlay-Jones, Kerrin Perry, John R Grigg, Svetlana Popova, Melissa Mei Yin Cheung, Carol Bower, Patrick Tam, Robyn V Jamieson, Elizabeth J Elliott
A limitation of this review is the inclusion only of English language articles, and that diagnostic categories within FASD were not compared. Limitations of the literature include inconsistencies in the use of FASD diagnostic criteria, PAE reporting, measures of eye function, reporting of results (e.g., units, N children vs N eyes), use of comparison group data, and standardisation in cut-offs for grading severity. It was difficult to compare rates of eye anomalies in FASD and PAE because few articles reported on the same measures. Most studies comprised Caucasian populations, which is relevant when looking for epicanthic folds, which are common in Asian populations,79 and the overall quality of studies was low. Although criteria for diagnosing FASD and PAE were specified in most studies, there was considerable variability in the criteria used. Some samples were prone to selection bias (e.g., based on large case series of children referred to ophthalmic clinics) and measurement bias (e.g., few assessors were blinded to exposure or diagnosis), and there was high heterogeneity in some meta-analyses. Few papers acknowledged the potential contribution of factors other than PAE on eye structure and function, including genetics and cortical involvement. Furthermore, few discussed the variability in eye abnormalities that might arise from differences in the timing, dose, and duration of PAE.
Ocular abnormalities among patients with Down syndrome
Published in Alexandria Journal of Medicine, 2022
Table 6 clearly shows ocular manifestation among DS cases in Gaza Strip, Palestine. It can be noticed that prominent epicanthic fold was the most common ocular manifestation in this study, and that was similar to last studies [30,31]. The percentage of nystagmus had 8% in the present study, in accordance with a previous study [32]. The incidence of the blepharitis in this study was 8%, which is similar to the result of Paudel et al. [33], and Creavin and Brown [4] reported the results of 18 studies, the prevalence was 5% or less in eight of these studies, while two studies found the prevalence to be 20–37%. In this study, the frequency of cataract was 32%.
Upper blepharoplasty: advanced techniques and adjunctive procedures
Published in Expert Review of Ophthalmology, 2023
Parya Abdolalizadeh, Mohsen Bahmani Kashkouli, Vahid Khamesi, Nasser Karimi, Hossein Ghahvehchian, Leila Ghiasian
Medial epicanthoplasty can be performed with internal or external techniques. Internal approach (anchor epicanthoplasty) is for mild-to-moderate grades of epicanthal folds and is performed by extending UB incision medially with no additional skin incision and scar (Figure 5) on the side of the nasal bridge [9,110]. More severe forms of epicanthal fold, however, require extra incisions (w, z, etc.) on the sides of the nose [9,106–110]. This, external epicanthoplasty is often ensued by skin scars (Figure 5) [106].