title: Craniometaphyseal dysplasia unnoticed until 19 years of age: First diagnosed from facial nerve paralysis.
abstract: Craniometaphyseal dysplasia (CMD) is a rare congenital bone disorder with facial dysmorphism developing from early childhood. We describe an unusual case of CMD unnoticed until the patient was 19 years old. Her disorder was diagnosed for the first time from her facial nerve paralysis, and was treated with high-dose corticosteroids. This report indicates the need for extreme caution in dealing with facial nerve paralysis since early detection and accurate diagnosis is important in the treatment of bone diseases. High-dose corticosteroid could be effective in treating facial nerve paralysis, even when nerves have been directly constricted by a bony overgrowth.
authors.affiliation: Department of Otolaryngology, Aichi Medical University, Nagakute, Aichi, Japan. tanigawa@aichi-med-u.ac.jp
authors.forename: Tohru
authors.initials: T
authors.lastname: Tanigawa
authors.forename: Hirokazu
authors.initials: H
authors.lastname: Tanaka
authors.forename: Takashi
authors.initials: T
authors.lastname: Sato
authors.forename: Shinya
authors.initials: S
authors.lastname: Banno
authors.forename: Mayuko
authors.initials: M
authors.lastname: Kishimoto
authors.forename: Hilary
authors.initials: H
authors.lastname: Brodie
authors.forename: Hiromi
authors.initials: H
authors.lastname: Ueda
mesh_terms: D000893:Anti-Inflammatory Agents / Q000008:administration & dosage; D001848:Bone Diseases, Developmental / Q000175:diagnosis / Q000188:drug therapy; D019465:Craniofacial Abnormalities / Q000175:diagnosis / Q000188:drug therapy; D057210:Delayed Diagnosis; D003937:Diagnosis, Differential; D004305:Dose-Response Relationship, Drug; D004334:Drug Administration Schedule; D005158:Facial Paralysis / Q000175:diagnosis / Q000188:drug therapy / Q000209:etiology*; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000175:diagnosis / Q000188:drug therapy / Q000209:etiology; D006801:Humans; D015576:Hyperostosis / Q000175:diagnosis / Q000188:drug therapy; D006972:Hypertelorism / Q000175:diagnosis / Q000188:drug therapy; D011239:Prednisolone / Q000008:administration & dosage; D014057:Tomography, X-Ray Computed; D055815:Young Adult
chemical_list: D000893:Anti-Inflammatory Agents; D011239:Prednisolone