International Journal of Pediatric Otorhinolaryngology
PaperCHARGE syndrome. Part I. External ear anomalies
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CHARGE syndrome, from occurrence to treatment
2023, Human GeneTemporal bone and intracranial abnormalities in syndromic causes of hearing loss: an updated guide
2020, European Journal of RadiologyCitation Excerpt :Hearing loss is observed in 60–90% of patients and it can be conductive, sensorineural or mixed [29], and anomalies are in every segment of the auditory system, from the external ear to the brainstem. External ear anomalies are very characteristic (the so-called “CHARGE ear”): small misshapen pinnae, which are low-set, anteverted, cup-shaped, and widened with reduced vertical height, are present in 95 %–100 % of patients [30]. CT scans of the middle ear show underdeveloped middle ear cavities, hypoplasia of the incus and stapes, ankylosis of the ossicles to the epitympanic wall, absence of pyramidal eminence and stapedius muscle, atresia/hypoplasia of the round and oval windows and an abnormal course of the tympanic facial nerve [27,31] (Fig. 5A and B); among these, a hypoplastic incus has been considered the most particular to CHARGE syndrome [20,29,32].
Distribution of associated component abnormalities in cases with unclassified multiple ("syndromic" ) anota/microtia
2011, International Journal of Pediatric OtorhinolaryngologyCitation Excerpt :In five cases this registry diagnosis was supported by the reported maternal varicella disease as well and three of them were personally examined by us. Thus this registry diagnosis based on these component CAs seemed to be valid [29]. Among CA-syndromes caused by mutant major genes, 5 cases had the registry diagnosis of BOR syndrome.
Vestibular areflexia as a cause of delayed motor skill development in children with the CHARGE association
1997, International Journal of Pediatric OtorhinolaryngologyAI-based diagnosis in mandibulofacial dysostosis with microcephaly using external ear shapes
2023, Frontiers in PediatricsOtopathologic Abnormalities in CHARGE Syndrome
2022, Otolaryngology - Head and Neck Surgery (United States)