Craniometaphyseal dysplasia: a case report and review of medical and surgical management.
Int J Pediatr Otorhinolaryngol
; 67(1): 71-7, 2003 Jan.
Article
in En
| MEDLINE
| ID: mdl-12560153
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.
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Collection:
01-internacional
Database:
MEDLINE
Main subject:
Osteochondrodysplasias
/
Skull
/
Plastic Surgery Procedures
/
Femur
Type of study:
Diagnostic_studies
Limits:
Female
/
Humans
/
Infant
Language:
En
Journal:
Int J Pediatr Otorhinolaryngol
Year:
2003
Document type:
Article
Affiliation country:
United States