Otologic manifestations of Fanconi anemia and other inherited bone marrow failure syndromes

Kalejaiye, Adedoyin; Giri, Neelam; Brewer, Carmen C.; Zalewski, Christopher; King, Kelly A.; Adams, Charleen D.; Rosenberg, Philip S.; Kim, H. Jeffrey; Alter, Blanche P.

doi:10.1002/pbc.26155

Cited by 12 publications

(17 citation statements)

References 21 publications

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“…Therefore, mild hearing loss, present in 62.5% of our FA patients with hearing loss, could easily have been missed. Two other studies reported a hearing loss prevalence of 50% and 45%, which is in line with our results . As in our population, in literature, the described hearing loss in FA is mostly conductive However, we found higher prevalences of sensorineural and mixed hearing loss compared to other studies .…”

Section: Discussionsupporting

confidence: 92%

Hearing loss and speech perception in noise difficulties in Fanconi anemia

et al. 2017

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Section: Discussionsupporting

confidence: 92%

Hearing loss and speech perception in noise difficulties in Fanconi anemia

et al. 2017

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“…The prevalence of otological problems in patients with FA varies from 10% to 20% according to literature reviews ( 1 , 2 ). Hearing impairments are more frequent in FA compared with other IBMFS ( 177 ).…”

Section: Dysmorphological and Oncological Phenotype Of Patients With ...mentioning

confidence: 91%

“…Structural ear anomalies of any kind have been found in more than half of patients after an intentional evaluation ( 177 ). As it appears to be the rule in FA, the structural abnormality range is wide.…”

Section: Dysmorphological and Oncological Phenotype Of Patients With ...mentioning

confidence: 99%

“…As it appears to be the rule in FA, the structural abnormality range is wide. The following alterations have been described: small tympanic membrane in 62%, malformed malleus in 33-57%, bony islands at tympanic membrane in 48%, pinna malformations (including microtia) in 10-35%, abnormal course or prominence of the chorda tympani nerve in 34%, narrow external auditory canal in 32%, narrow internal auditory canal in 6%, and atresia of the external auditory canal in 3% ( 177 , 178 ).…”

Section: Dysmorphological and Oncological Phenotype Of Patients With ...mentioning

confidence: 99%

“…In sharp contrast, in DC/TBD structural, ear abnormalities have not been reported despite the intentional study of otologic features has been done ( 177 ).…”

Section: Dysmorphological and Oncological Phenotype Of Patients With ...mentioning

confidence: 99%

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Fanconi anemia and dyskeratosis congenita/telomere biology disorders: Two inherited bone marrow failure syndromes with genomic instability

et al. 2022

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Inherited bone marrow failure syndromes (IBMFS) are a complex and heterogeneous group of genetic diseases. To date, at least 13 IBMFS have been characterized. Their pathophysiology is associated with germline pathogenic variants in genes that affect hematopoiesis. A couple of these diseases also have genomic instability, Fanconi anemia due to DNA damage repair deficiency and dyskeratosis congenita/telomere biology disorders as a result of an alteration in telomere maintenance. Patients can have extramedullary manifestations, including cancer and functional or structural physical abnormalities. Furthermore, the phenotypic spectrum varies from cryptic features to patients with significantly evident manifestations. These diseases require a high index of suspicion and should be considered in any patient with abnormal hematopoiesis, even if extramedullary manifestations are not evident. This review describes the disrupted cellular processes that lead to the affected maintenance of the genome structure, contrasting the dysmorphological and oncological phenotypes of Fanconi anemia and dyskeratosis congenita/telomere biology disorders. Through a dysmorphological analysis, we describe the phenotypic features that allow to make the differential diagnosis and the early identification of patients, even before the onset of hematological or oncological manifestations. From the oncological perspective, we analyzed the spectrum and risks of cancers in patients and carriers.

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