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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.
Smith-Magenis Syndrome—A Developmental Disorder with Circadian Dysfunction
Published in Merlin G. Butler, F. John Meaney, Genetics of Developmental Disabilities, 2019
Ann C.M. Smith, Wallace C. Duncan
The skin and hair are generally fairer than other family members (Smith, personal observation). A range of ocular findings has been described, including iris anomalies (68%), microcornea (50%), strabismus (37%), myopia (42%), cataracts, and/or retinal detachment (6,9,25). The presence of heterochromatic irides (Wolfflin–Kruckmann spots) is reported which may be erroneously referred to as Brushfield spots as seen in DS. High myopia and retinal detachment appear to be age dependent. Other rare ocular anomalies reported in isolated cases include iris dysgenesis (25), congenital right Brown’s syndrome (57), and visual loss caused by macular disciform scars (58).
Ocular manifestations of systemic diseases in children
Published in Clinical and Experimental Optometry, 2023
Cheefoong Chong, Ann L Webber, Shuan Dai
Ocular anomalies are highly prevalent in children with trisomy 21. These include the following: Refractive errorStrabismusNystagmusUpward slanting palpebral fissures and epicanthal foldsEpiphora mainly due to orbicularis oculi hypotonia and functional lacrimal pump failureBlepharitisKeratoconusBrushfield spotsCataractsOptic disc anomalies
Spectral Domain Optical Coherence Tomography in Detecting Sub-Clinical Retinal Findings in Asian Indian Children with Down Syndrome
Published in Current Eye Research, 2019
Shwetha Mangalesh, Anand Vinekar, Chaitra Jayadev, Vasudha Kemmanu, Meenakshi Bhat, Munusamy Sivakumar, Noel Bauer, Carol Webers, Bhujang Shetty
Down syndrome (DS) or Trisomy 21 is the most common chromosomal anomaly reported worldwide.1 Ocular associations reported with DS predominantly include lid abnormalities like epicanthus, upward slanting palpebral fissure, epiblepharon, blepharitis, entropion, ectropion, ptosis, and chalazion.2–14 Other ocular morbidities include refractive errors,15–21 strabismus,22–24 nystagmus,25,26 nasolacrimal duct obstruction, conjunctivitis, lenticular opacities,27 glaucoma,28 corneal opacities, keratoconus29,30 and Brushfield spots.31
Ocular abnormalities among patients with Down syndrome
Published in Alexandria Journal of Medicine, 2022
On the other hand, low prevalence of nystagmus (29.2%), esotropia (26.1%), epiphora (21.5%), Brushfield spots (16.9%), and lens opacities (12.3%) has been reported in Slovenia [1]. DSC form Iran [19] have a high prevalence of prolate cornea.