Otolaryngologic manifestations of Kabuki syndrome.
A review of clinical findings in 12 children with Kabuki syndrome revealed a high prevalence of otolaryngologic problems, including dysmorphic pinnae (100%), ear disease (92%), hearing loss (82%) and airway problems (58%). The high prevalence of ear disease and hearing loss was not explained solely on the basis of prevalence of cleft palate. Patients with Kabuki syndrome require the diagnostic and treatment expertise of otolaryngologists on an ongoing basis.
Peterson-Falzone
S J
SJ
Department of Growth and Development, University of California, San Francisco 94143-0442, USA.
Golabi
M
M
Lalwani
A K
AK
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D000402:Airway Obstruction / Q000175:diagnosis*; D002972:Cleft Palate / Q000175:diagnosis; D004431:Ear, External / Q000002:abnormalities; D005145:Face / Q000002:abnormalities*; D005260:Female; D006801:Humans; D008297:Male; D010038:Otorhinolaryngologic Diseases / Q000175:diagnosis* / Q000235:genetics; D013577:Syndrome