A Case of Craniometaphyseal Dysplasia Associated with the Facial Paralysis / 대한이비인후과학회지

ABSTRACT

Craniometaphyseal dysplasia is a rare bone disorder of unknown etiology characterized by overgrowth of the craniofacial bones and abnormal remodeling of the metaphyses. This disease can be sporadic or transmitted by autosomal dominant and recessive modes of inheritance, with recessive cases being more severe. Excessive net bone formation leads to frontal and paranasal bossing, hypertelorism, extremely broad and flat nasal bridge with a saddle deformity, lacrimal duct obstruction, paranasal sinus and mastoid obliteration, compression of cranial nerves, with resultant loss of vision, strabismus, facial paralysis, and deafness. Also, abnormal bone remodeling results in widening in the metaphyses of the long tubular bones, giving the appearance of an Erlenmeyer flask. We present a sporadic case of craniometaphyseal dysplasia associated with the facial paralysis observed in a 4 year-old female, emphasizing the importance of early detection of accompanying lesions for proper management.