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

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

Research output: Contribution to journalArticle

Abstract

Background: The inherited bone marrow failure syndromes (IBMFSs) are diverse disorders with syndrome-specific features; their otologic and audiologic manifestations have not been well described. Our objective was to characterize these in patients with Fanconi anemia (FA), dyskeratosis congenita (DC), Diamond-Blackfan anemia (DBA), and Shwachman-Diamond syndrome (SDS), and to determine the association between physical findings and hearing loss. Methods: Patients with an IBMFS underwent comprehensive clinical and laboratory evaluations and testing for syndrome-specific gene mutations. Hearing loss was measured by pure tone audiometry and otologic abnormalities by otomicroscopy. Results: Patients included 33 with FA, 37 with DC, 32 with DBA, and nine with SDS. Hearing loss was most frequent in patients with FA (45%) and DBA (14%). The most common type of hearing loss in FA was conductive (65%). Absent or hypoplastic radius, noted in 21% of the patients with FA, was associated with hearing loss in all cases. Otomicroscopy was abnormal in 66% of patients with FA. Characteristic ear abnormalities included small tympanic membrane (66%), malformed malleus (57%), aberrant tympanic bony island (48%), narrow external auditory canal (EAC) (32%), and abnormal course of chorda tympani (34%). Ear malformations were almost always associated with hearing loss. Hearing loss was rare in patients with DC and SDS. Conclusions: FA is the major IBMFS with associated hearing loss, which is most commonly conductive. Radial hypoplasia or aplasia and characteristic congenital ear malformations are associated with hearing loss in patients with FA. Recognition of these syndrome-specific abnormalities should lead to earlier management of hearing loss.

Original languageEnglish (US)
JournalPediatric Blood and Cancer
DOIs
StateAccepted/In press - 2016
Externally publishedYes

Fingerprint

Fanconi Anemia
Hearing Loss
Dyskeratosis Congenita
Diamond-Blackfan Anemia
Ear
Malleus
Bone Marrow failure syndromes
Pure-Tone Audiometry
Tympanic Membrane
Ear Canal
Islands

Keywords

  • Fanconi anemia
  • Hearing
  • IBMFS
  • Otology

ASJC Scopus subject areas

  • Oncology
  • Pediatrics, Perinatology, and Child Health
  • Hematology

Cite this

Kalejaiye, A., Giri, N., Brewer, C. C., Zalewski, C. K., King, K. A., Adams, C. D., ... Alter, B. P. (Accepted/In press). Otologic manifestations of Fanconi anemia and other inherited bone marrow failure syndromes. Pediatric Blood and Cancer. https://doi.org/10.1002/pbc.26155

Otologic manifestations of Fanconi anemia and other inherited bone marrow failure syndromes. / Kalejaiye, Adedoyin; Giri, Neelam; Brewer, Carmen C.; Zalewski, Christopher K.; King, Kelly A.; Adams, Charleen D.; Rosenberg, Philip S.; Kim, H. Jeffrey; Alter, Blanche P.

In: Pediatric Blood and Cancer, 2016.

Research output: Contribution to journalArticle

Kalejaiye, A, Giri, N, Brewer, CC, Zalewski, CK, King, KA, Adams, CD, Rosenberg, PS, Kim, HJ & Alter, BP 2016, 'Otologic manifestations of Fanconi anemia and other inherited bone marrow failure syndromes', Pediatric Blood and Cancer. https://doi.org/10.1002/pbc.26155
Kalejaiye, Adedoyin ; Giri, Neelam ; Brewer, Carmen C. ; Zalewski, Christopher K. ; King, Kelly A. ; Adams, Charleen D. ; Rosenberg, Philip S. ; Kim, H. Jeffrey ; Alter, Blanche P. / Otologic manifestations of Fanconi anemia and other inherited bone marrow failure syndromes. In: Pediatric Blood and Cancer. 2016.
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AU - Giri, Neelam

AU - Brewer, Carmen C.

AU - Zalewski, Christopher K.

AU - King, Kelly A.

AU - Adams, Charleen D.

AU - Rosenberg, Philip S.

AU - Kim, H. Jeffrey

AU - Alter, Blanche P.

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N2 - Background: The inherited bone marrow failure syndromes (IBMFSs) are diverse disorders with syndrome-specific features; their otologic and audiologic manifestations have not been well described. Our objective was to characterize these in patients with Fanconi anemia (FA), dyskeratosis congenita (DC), Diamond-Blackfan anemia (DBA), and Shwachman-Diamond syndrome (SDS), and to determine the association between physical findings and hearing loss. Methods: Patients with an IBMFS underwent comprehensive clinical and laboratory evaluations and testing for syndrome-specific gene mutations. Hearing loss was measured by pure tone audiometry and otologic abnormalities by otomicroscopy. Results: Patients included 33 with FA, 37 with DC, 32 with DBA, and nine with SDS. Hearing loss was most frequent in patients with FA (45%) and DBA (14%). The most common type of hearing loss in FA was conductive (65%). Absent or hypoplastic radius, noted in 21% of the patients with FA, was associated with hearing loss in all cases. Otomicroscopy was abnormal in 66% of patients with FA. Characteristic ear abnormalities included small tympanic membrane (66%), malformed malleus (57%), aberrant tympanic bony island (48%), narrow external auditory canal (EAC) (32%), and abnormal course of chorda tympani (34%). Ear malformations were almost always associated with hearing loss. Hearing loss was rare in patients with DC and SDS. Conclusions: FA is the major IBMFS with associated hearing loss, which is most commonly conductive. Radial hypoplasia or aplasia and characteristic congenital ear malformations are associated with hearing loss in patients with FA. Recognition of these syndrome-specific abnormalities should lead to earlier management of hearing loss.

AB - Background: The inherited bone marrow failure syndromes (IBMFSs) are diverse disorders with syndrome-specific features; their otologic and audiologic manifestations have not been well described. Our objective was to characterize these in patients with Fanconi anemia (FA), dyskeratosis congenita (DC), Diamond-Blackfan anemia (DBA), and Shwachman-Diamond syndrome (SDS), and to determine the association between physical findings and hearing loss. Methods: Patients with an IBMFS underwent comprehensive clinical and laboratory evaluations and testing for syndrome-specific gene mutations. Hearing loss was measured by pure tone audiometry and otologic abnormalities by otomicroscopy. Results: Patients included 33 with FA, 37 with DC, 32 with DBA, and nine with SDS. Hearing loss was most frequent in patients with FA (45%) and DBA (14%). The most common type of hearing loss in FA was conductive (65%). Absent or hypoplastic radius, noted in 21% of the patients with FA, was associated with hearing loss in all cases. Otomicroscopy was abnormal in 66% of patients with FA. Characteristic ear abnormalities included small tympanic membrane (66%), malformed malleus (57%), aberrant tympanic bony island (48%), narrow external auditory canal (EAC) (32%), and abnormal course of chorda tympani (34%). Ear malformations were almost always associated with hearing loss. Hearing loss was rare in patients with DC and SDS. Conclusions: FA is the major IBMFS with associated hearing loss, which is most commonly conductive. Radial hypoplasia or aplasia and characteristic congenital ear malformations are associated with hearing loss in patients with FA. Recognition of these syndrome-specific abnormalities should lead to earlier management of hearing loss.

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