title: Otologic manifestations of Fanconi anemia and other inherited bone marrow failure syndromes.
abstract: 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.
  
  
  
  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.
  
  
  
  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.
  
  
  
  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.
authors.affiliation: Howard University Hospital, Washington, District of Columbia.
authors.forename: Adedoyin
authors.initials: A
authors.lastname: Kalejaiye
authors.affiliation: National Cancer Institute, National Institutes of Health, Rockville, Maryland. girin@mail.nih.gov.
authors.forename: Neelam
authors.initials: N
authors.lastname: Giri
authors.affiliation: National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, Maryland.
authors.forename: Carmen C
authors.initials: CC
authors.lastname: Brewer
authors.affiliation: National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, Maryland.
authors.forename: Christopher K
authors.initials: CK
authors.lastname: Zalewski
authors.affiliation: National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, Maryland.
authors.forename: Kelly A
authors.initials: KA
authors.lastname: King
authors.affiliation: University of Washington School of Public Health, Seattle, Washington.
authors.forename: Charleen D
authors.initials: CD
authors.lastname: Adams
authors.affiliation: National Cancer Institute, National Institutes of Health, Rockville, Maryland.
authors.forename: Philip S
authors.initials: PS
authors.lastname: Rosenberg
authors.affiliation: National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, Maryland.|Medstar Georgetown University Hospital, Washington, District of Columbia.
authors.forename: H Jeffrey
authors.initials: HJ
authors.lastname: Kim
authors.affiliation: National Cancer Institute, National Institutes of Health, Rockville, Maryland.
authors.forename: Blanche P
authors.initials: BP
authors.lastname: Alter
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000741:Anemia, Aplastic / Q000150:complications*; D029503:Anemia, Diamond-Blackfan / Q000150:complications; D001855:Bone Marrow Diseases / Q000150:complications*; D000080983:Bone Marrow Failure Disorders; D002648:Child; D002675:Child, Preschool; D010188:Exocrine Pancreatic Insufficiency / Q000150:complications; D005199:Fanconi Anemia / Q000150:complications*; D005260:Female; D034381:Hearing Loss / Q000209:etiology*; D006457:Hemoglobinuria, Paroxysmal / Q000150:complications*; D006801:Humans; D007223:Infant; D008068:Lipomatosis / Q000150:complications; D008297:Male; D008875:Middle Aged; D000081003:Shwachman-Diamond Syndrome; D055815:Young Adult
keywords: Fanconi anemia; IBMFS; hearing; otology