These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Search MEDLINE/PubMed

  • Title: Craniometaphyseal dysplasia: a case report and review of medical and surgical management.
    Author: Sheppard WM, Shprintzen RJ, Tatum SA, Woods CI.
    Journal: Int J Pediatr Otorhinolaryngol; 2003 Jun; 67(6):687-93. PubMed ID: 12745166.
    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.
    [Abstract] [Full Text] [Related] [New Search]