Craniometaphyseal dysplasia: a case report and review of medical and surgical management

Abstract 

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.

Keywords: Craniometaphyseal dysplasia (sporadic), Skeletal dysplasia, Osteochondrodysplasia, Pediatric, Otolaryngology, Calcitonin, Calcitriol, Craniofacial surgery, Otologic surgery, Pathogenesis