Otolaryngological manifestations of cleidocranial dysplasia, concentrating on audiological findings.
OBJECTIVE
Cleidocranial dysplasia is an autosomal dominant skeletal syndrome characterized by open skull sutures and clavicular hypoplasia or aplasia. It results from mutations in the transcription factor CBFA1 required for osteoblast differentiation and normal bone formation. Therefore, mutations in CBFA1 would be expected to cause conductive or sensorineural hearing loss, or both. The objective of the study was to evaluate the auditory function and head and neck manifestations of patients with cleidocranial dysplasia.


METHODS
Case series.


METHODS
Patients with cleidocranial dysplasia who were identified from the case records of the Craniofacial Anomalies Center at the University of California San Francisco (San Francisco, CA) gave medical and developmental history, underwent a general physical examination and a thorough head and neck examination, and completed a comprehensive audiological evaluation.


RESULTS
Four families with eight affected individuals in all and one sporadic case were studied. The nine patients showed highly variable expression of abnormalities. Head and neck examination demonstrated abnormal cranial sutures, broad nasal root, clavicular hypoplasia or aplasia, and abnormally high arched palate. Although seven of nine patients showed eustachian tube dysfunction, recurrent otitis media in childhood requiring surgical intervention was not common. Hearing loss was present in three of nine patients (33%). One patient had a 40-dB mixed hearing loss, the second had a 25-dB low-frequency conductive hearing loss, and the third had a 45-dB high-frequency sensorineural hearing loss.


CONCLUSIONS
In patients with cleidocranial dysplasia, eustachian tube dysfunction, conductive hearing loss, and sensorineural hearing loss are common because of structural and functional changes of the temporal bone and palate. Therefore, patients with cleidocranial dysplasia should be evaluated routinely by an otolaryngologist and undergo complete audiological testing.
Visosky
Ann Marie B
AM
Department of Otolaryngology--Head and Neck Surgery, University of California San Francisco, USA.
Johnson
Jacob
J
Bingea
Becky
B
Gurney
Theresa
T
Lalwani
Anil K
AK
D000293:Adolescent; D000328:Adult; D000368:Aged; D001301:Audiometry, Pure-Tone; D001309:Auditory Threshold / Q000502:physiology; D001844:Bone Conduction / Q000502:physiology; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations; D002896:Chromosomes, Human, Pair 6; D002973:Cleidocranial Dysplasia / Q000175:diagnosis* / Q000235:genetics; D050659:Core Binding Factor Alpha 1 Subunit; D005064:Eustachian Tube / Q000002:abnormalities / Q000503:physiopathology; D005260:Female; D005799:Genes, Dominant; D006314:Hearing Loss, Conductive / Q000175:diagnosis* / Q000235:genetics; D006319:Hearing Loss, Sensorineural / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009363:Neoplasm Proteins; D014157:Transcription Factors / Q000235:genetics
D050659:Core Binding Factor Alpha 1 Subunit; D009363:Neoplasm Proteins; D014157:Transcription Factors