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Head and Neck Muscles
Published in Eve K. Boyle, Vondel S. E. Mahon, Rui Diogo, Handbook of Muscle Variations and Anomalies in Humans, 2022
Eve K. Boyle, Vondel S. E. Mahon, Rui Diogo, Warrenkevin Henderson, Hannah Jacobson, Noelle Purcell, Kylar Wiltz
Inferior rectus muscles were thinner than normal in fetuses with anencephaly (Plock et al. 2007) and in a fetus with trisomy 18 and cyclopia (Smith et al. 2015). In a fetus with prosencephaly, there was a tripartite inferior rectus (von Lüdinghausen et al. 1999). Its lateral belly blended with the posterior tendon of inferior oblique and its medial belly attached medial to the main belly of inferior rectus (von Lüdinghausen et al. 1999). In two fetuses with triploidy, the attachments of the recti onto the sclera were shifted posteriorly (Moen et al. 1984). Diamond et al. (1980) noted the absence of the right inferior rectus in a child with craniofacial dysostosis. In a child with Axenfeld-Rieger syndrome, there was hypoplasia of inferior rectus on the right side (Bhate and Martin 2012).
Oral and craniofacial disorders
Published in Angus Clarke, Alex Murray, Julian Sampson, Harper's Practical Genetic Counselling, 2019
Hypodontia, or lack of one or a few permanent teeth, is extremely common (5%–10% in most surveys) and is often inherited as a variable autosomal dominant trait. One gene implicated in both syndromic and non-syndromic tooth agenesis is MSX1. Hypodontia may be the only significant finding in female heterozygotes for X-linked hypohidrotic ectodermal dysplasia (see Chapter 18), where incisors may also be peg shaped. Oligodontia and complete anodontia are commonly associated with this disorder in males, but can also occur in other ectodermal dysplasia syndromes, in orofaciodigital (OFD) syndrome type 1 (X-linked dominant) and with iris dysplasia in Rieger syndrome (autosomal dominant). A single central incisor tooth may be associated with midline abnormalities such as holoprosencephaly (e.g. in association with SHH).
Ophthalmology
Published in Stephan Strobel, Lewis Spitz, Stephen D. Marks, Great Ormond Street Handbook of Paediatrics, 2019
It is often associated with hypermetropia, colobomas of the iris, cataracts, persistent hyperplastic primary vitreous, retinopathy of prematurity, angle closure glaucoma, infantile glaucoma and chronic open angle glaucoma. Systemic associations include Ehlers–Danlos syndrome, Marfan syndrome, Rieger syndrome, Norrie syndrome, Trisomy 21 (Down syndrome), progeria, rubella, Turner syndrome, Waardenburg syndrome, Weil–Marchesani syndrome, Warburg micro syndrome, cataract microcornea syndrome and acroreno-ocular syndrome.
From interned refugee to neuropathologist and psychiatrist
Published in Journal of the History of the Neurosciences, 2019
Anzo Nguyen, Frank W. Stahnisch
To fully understand the impact internment had on Igersheimer’s later life, it must be recognized that he had faced an increasing deterioration of his eyesight. His glaucoma, which was a symptom of Rieger syndrome,3Rieger syndrome is a rare, autosomal dominant genetic disorder that results in glaucoma in approximately 50% of those who have this disease, among other symptoms such as microdontia, a protruding lower lip, and occasional umbilical abnormalities (Lahroud, 2014, pp. 96ff.). continued to worsen in an environment without sufficient medical care. For two to three hours a day, shortly after ingesting medicine that he had smuggled into the camp from England, he would be unable to see, exasperating the stress of internment. Whereas some internees, such as historical writer Eric Koch (1919–2018), retrospectively viewed their internment as a brief interruption of their youth, Igersheimer viewed the experience as a grave injustice. This bitterness was also caused by the fact that by being interned, he was pulled away from the Allied war effort, a cause he was eager to sacrifice for and an opinion he stated various times in his published memoirs (Igersheimer, 2005). At the same time, however, he would not so much as hold a grudge; he would use the skills and congeniality he developed from his adversity in Canada and Cuba to develop a successful career as a pediatrician and psychiatrist.4Personal telecommunication of Ian Darragh with Anzo Nguyen (July 23, 2018), Toronto, Ontario, and Calgary, Alberta.
Unclassified Axenfeld-Rieger Syndrome: A CASE SERIES and Review of Literature
Published in Seminars in Ophthalmology, 2018
Aparna Rao, Debananda Padhy, Sarada Sarangi, Gopinath Das
Traditionally, Axenfeld anomaly refers to a prominent Schwalbe’s line with iris strands attaching to the Schwalbe’s line, while Rieger’s anomaly consists of these with iris stromal hypoplasia. Syndromic association in the latter conferred the title of Rieger syndrome to the entity. It is now known that these anomalies are a spectrum of the same disorder, now termed ARS due to the same autosomal dominant gene.1,3 The term anterior segment dysgenesis denotes the range of the clinical spectrum of diseases that results from abnormal neural crest cell migration during embryogenesis of the anterior segment structures, including the cornea, trabecular meshwork, and iris.3,5–7 The most accepted classification gives the entire spectrum of isolated trabeculodysgenesis typical of primary congenital glaucoma to the involvement of the adjacent iris (periphery as seen in Axenfeld anomaly or mid-periphery as in Rieger’s anomaly) to complete absence of the iris as seen in aniridia.8 This spectrum often results from a common period of development of the trabecular meshwork (TM), iris stroma, and cornea. While the TM with identifiable inter-trabecular spaces can be identified at 12–18 weeks, the cornea endothelium and iris stroma develop from the first and third wave of neural crest cells at the proposed primordial angle at the eighth to twelfth weeks.9 The time of particular insult to the embryogenesis process at 12 to 18 weeks can therefore affect both the trabecular meshwork and the iris development, which is typical of many forms of ASD. Yet, pattern and cause of insult may still cause variations in the developmental aberrations seen. This may partly explain the spectrum of findings with common insult, like genetic mutation, as seen in ARS.6 Extension of this insult onto earlier weeks of corneal endothelial involvement can also cause aberrant corneal development, as seen in Peters anomaly or microcornea. Since the time, pattern, and cause of insult therefore drive the aberrant developmental process of particular structures affected during the time of insult, different phenotypes may be seen when the insult extends during the development of different angle structures, as seen in unclassified ASD. In this study, we found atypical focal iris strands extending from mid-periphery to the cornea (not the Schwalbe’s line) with no adjacent corneal abnormality, representing abnormal movement of the uveal structures at these focal points or a result of anterior movement or adhesion of the iris onto the cornea due to some pathological condition like focal trabeculitis and uveitis. Several of these eyes also had concurrent corneal changes, though only three cases developed recurrent uveitis in one eye over follow-up visits.