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New Aspects of Isotretinoin Teratogenicity
Published in Ayse Serap Karadag, Berna Aksoy, Lawrence Charles Parish, Retinoids in Dermatology, 2019
Overactivation of p53 induces features of CHARGE syndrome exhibiting loss-of-function gene mutations of the chromatin remodeling protein CHD7 (76) that is necessary for proper craniofacial development (77). CHD7 binding to the TP53 promoter suppresses p53 expression. CHD7 loss in mouse NCC or samples from patients with CHARGE syndrome results in p53 activation (78). Overactivated mutant p53 during murine embryogenesis triggered cell-cycle arrest and apoptosis causing CHARGE phenotypes (76).
Teaching children who are deafblind in physical education, physical activity and recreation
Published in John Ravenscroft, The Routledge Handbook of Visual Impairment, 2019
Lauren J. Lieberman, Justin A. Haegele
The leading cause of child-onset deafblindness is CHARGE syndrome. The diagnosis of CHARGE syndrome is clinically based on the medical features of the child. An evaluation for possible CHARGE syndrome should be made by a medical geneticist who is familiar with the syndrome. The clinical diagnosis is made using a combination of major and minor features. Major features are characteristics that are common in CHARGE syndrome but relatively rare in other conditions and are, for the most part, diagnosable in the newborn period. Minor features are characteristics that are also common in CHARGE but not quite as helpful in distinguishing CHARGE from other syndromes. Major features in children with CHARGE include vision problems, swallowing and nasal issues, hearing difficulties and growth delays. CHARGE syndrome is a leading cause of deafblindness at birth. Because children with CHARGE experience so many medical complications, it is imperative that they be taught to their functional ability. As they get stronger and experience fewer visits to the hospital, the instructor can increase the length, duration and intensity of activities offered.
Case 93
Published in Simon Lloyd, Manohar Bance, Jayesh Doshi, ENT Medicine and Surgery, 2018
Simon Lloyd, Manohar Bance, Jayesh Doshi
The condition is associated with CHARGE syndrome. This consists of: Coloboma of the eyeHeart defectsAtresia of the nasal choanaeRetardation of growth/developmentGenital/urological abnormalitiesEar abnormalities/deafness50% of CHARGE patients have some sort of choanal atresia75% of bilateral choanal atresia patients have other CHARGE defects36% of unilateral choanal atresia patients have other CHARGE defects
Clinical Presentations and Diagnostic Imaging of VACTERL Association
Published in Fetal and Pediatric Pathology, 2023
Gabriele Tonni, Çağla Koçak, Gianpaolo Grisolia, Giuseppe Rizzo, Edward Araujo Júnior, Heron Werner, Rodrigo Ruano, Waldo Sepulveda, Maria Paola Bonasoni, Mario Lituania
acronym CHARGE was first coined by Pagon et al. in 1981 [64]. Unlike VACTERL association, CHARGE syndrome, an autosomal dominant disorder, has a causative gene CHD7 that maps to chromosome 8q12. The difference between VACTERL association and CHARGE is intellectual disability. In individuals with CHARGE, intellectual disability becomes more obvious over time, while in VACTERL association intellectual disability is not an expected outcome [65]. The finding of coloboma and choanal atresia, ear anomalies, and growth restriction are other distinguishing features between CHARGE and VACTERL, although both disorders typically share cardiac and genitourinary anomalies. Even though there is clinical testing available for CHARGE with an accuracy rate of 60-65%, the diagnosis is made based on clinical findings as it is in VACTERL association [66].
Orbital Cyst with Ependymal Differentiation Associated with Microphthalmia
Published in Fetal and Pediatric Pathology, 2022
Maria D. Garcia, Diva R. Salomao, Lilly H. Wagner
A full-term male infant, born at an outside institution, had a large mass in the right inferior orbit that was present at birth. At 5 months of age, the patient presented with his parents to our oculoplastic surgery service at Mayo Clinic for further evaluation (Figure 1A). At the time of birth, he was noted to have preauricular pits, but no other systemic anomalies. There was no family history of ocular disorders or information regarding maternal ingestion of vitamin A. On the side of the orbital cyst, the globe could not be visualized. Fundus examination of the contralateral eye showed an inferior chorioretinal coloboma sparing the macula. Genetic testing was performed for possible CHARGE syndrome and demonstrated a copy number gain of unknown clinical significance within chromosome 3q29. Serum titers for cytomegalovirus and toxoplasmosis were negative. Magnetic resonance imaging showed a well-defined cystic lesion in the anterior right orbit adjacent to a small posteriorly displaced globe, and no connection to the posterior fossa (Figure 1B).
The development of an educational checklist for individuals with CHARGE syndrome
Published in International Journal of Developmental Disabilities, 2021
Lillian J. Slavin, Timothy S. Hartshorne
CHARGE syndrome is a complex genetic syndrome, which is estimated to occur in approximately 1:10,000 to 1:15,000 births (Trider et al.2017). CHARGE syndrome is multi-faceted, typically affecting every sensory system (i.e. visual, auditory, tactile, gustatory, olfactory, vestibular, and proprioceptive; Davenport and Hefner 2011) to a varying degree. A CHARGE diagnosis is made using a combination of clinical criteria—established by Blake et al. (1998) and Verloes (2005)—and genetic testing. Clinical criteria include major criteria, which occur frequently in CHARGE but infrequently in other populations, and minor criteria, which are less common than major criteria, but are still characteristic of the syndrome (See Table 1 for a comparison of the criteria). For additional information regarding CHARGE diagnostic criteria, see Hefner and Fassi (2017).