Affiliation:
1. Craniofacial Program, Divisions of Plastic and Reconstructive Surgery
2. Neurological Surgery
3. Department of Pediatrics
4. Department of Diagnostic Radiology; University of Washington School of Medicine and Children's Hospital and Medical Center, Seattle, Washington.
Abstract
Craniodiaphyseal dysplasia is a rare, sporadic form of craniotubular bone dysplasia, characterized by massive generalized hyperostosis and sclerosis, particularly of the skull and facial bones, leading to severe deformity. The clinical course is typically characterized by progressive encroachment of the craniofacial foramina and brain by the relentless deposition of bone. Compression of cranial nerves, the foramen magnum, and intracranial contents commonly leads to blindness, loss of hearing, and death. This report describes a unique case of craniodiaphyseal dysplasia manifesting with asymmetric craniofacial and axial hyperostosis. The tubular bones demonstrated the characteristic diaphyseal endostosis, undertubulation, and relative overgrowth on the involved side. Significant brain compression with signs and symptoms of increased intracranial pressure was managed successfully with decompressing craniectomy at age 12 years, enlarging the anterior and middle fossae. Calvarial thickness measured nearly 4 cm. Further calvarial, midfacial, and mandibular recontouring were performed 6 and 22 months later. Follow-up in our case indicates that close observation is mandatory to manage further progression of the disease.
Subject
Otorhinolaryngology,Oral Surgery
Cited by
3 articles.
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1. Craniodiaphyseal dysplasia, a very rare form of bone dysplasia;Oral and Maxillofacial Surgery Cases;2020-03
2. C;Taybi and Lachman's Radiology of Syndromes, Metabolic Disorders and Skeletal Dysplasias;2007
3. MR imaging features of craniodiaphyseal dysplasia;Pediatric Radiology;2003-10-07