Craniometaphyseal dysplasia: a case report and review of medical and surgical management.
Craniometaphyseal dysplasia (CMD) is a genetic syndrome involving cranial and tubular bone anomalies that commonly present at a young age, often with otolaryngologic manifestations. In this paper, we report a rare case of a sporadic form of the disease resulting in an early state of hypocalcemia with secondary hyperparathyroidism. A conductive hearing loss is also documented prior to 12 months of age. The clinical aspects of CMD will be covered along with its pathogenesis. The current concepts surrounding medical and surgical treatments will be reviewed, and the management of our patient will be discussed.
Sheppard
William M
WM
Department of Otolaryngology/Communicative Disorders Unit, SUNY-Upstate Medical University, 750 East Adams St., Syracuse, NY 13210, USA. wmjss@yahoo.com
Shprintzen
Robert J
RJ
Tatum
Sherard A
SA
Woods
Charles I
CI
D003966:Camurati-Engelmann Syndrome / Q000000981:diagnostic imaging / Q000601:surgery; D005260:Female; D005269:Femur / Q000002:abnormalities* / Q000000981:diagnostic imaging / Q000601:surgery; D006801:Humans; D007223:Infant; D010009:Osteochondrodysplasias / Q000601:surgery*; D011859:Radiography; D019651:Plastic Surgery Procedures / Q000379:methods*; D012886:Skull / Q000002:abnormalities* / Q000000981:diagnostic imaging / Q000601:surgery*