The temporal bone anomaly in CHARGE association.
Examination of the temporal bones from a patient with the CHARGE association revealed an unusual form of dysplasia. Mondini dysplasia of the pars inferior with complete absence of the pars superior was observed in both temporal bones. A review of the literature revealed four previous descriptions of this unique anomaly in patients whose clinical picture resembled the required components of CHARGE. On this basis, it is suggested that this anomaly represents a specific form of labyrinthine dysplasia which may be called the CHARGE dysplasia of the temporal bone.
D000015:Abnormalities, Multiple / Q000473:pathology*; D002754:Choanal Atresia / Q000150:complications; D003103:Coloboma / Q000150:complications; D005260:Female; D006130:Growth Disorders / Q000150:complications; D006330:Heart Defects, Congenital / Q000150:complications; D006801:Humans; D007223:Infant; D012160:Retina / Q000002:abnormalities; D013577:Syndrome; D013701:Temporal Bone / Q000002:abnormalities*