Document Detail

Craniometaphyseal and craniodiaphyseal dysplasia, head and neck manifestations and management.
MedLine Citation:
PMID:  8733453     Owner:  NLM     Status:  MEDLINE    
Craniometaphyseal and craniodiaphyseal dysplasia are rare genetic disorders of bone due to modelling errors of long bones and skull bones. These syndromes present with multiple ENT symptomatology from an early age. The diagnostic distinction can now be made radiologically by serial skeletal survey which is important for prognosis. We review the clinical, radiological, computed tomography (CT) scan, otological, audiological and histopathological findings in two cases with craniodiaphyseal, and two cases with craniometaphyseal dysplasia, and report our experiences of medical and surgical treatment to date. In the craniodiaphyseal dysplasia, the hearing abnormality progressed from an initial conductive to a mixed loss on serial audiometric follow up. Temporal bone CT scans showed narrowing of the middle ear cavity, internal auditory meatus, and facial nerve canal at the geniculate ganglion. Benefits from choanal stenosis surgery, craniofacial remodelling and dacrocystorhinostomy were shortlived. Calcitriol therapy with a low calcium diet did not alter the clinical course of progression in our cases. The underlying defect, causing net bone formation in these phenotypically similar syndromes, appears to be different when based on the differing biochemical responses to calcitriol and bone biopsy findings. Increased numbers of osteoblasts were found in bone biopsies from both cases with craniodiaphyseal dysplasia. Early recognition is crucial in these conditions as therapy directed at the underlying bony defect has the best chance of success if initiated in infancy.
A Richards; C Brain; M J Dillon; C M Bailey
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  The Journal of laryngology and otology     Volume:  110     ISSN:  0022-2151     ISO Abbreviation:  J Laryngol Otol     Publication Date:  1996 Apr 
Date Detail:
Created Date:  1996-10-17     Completed Date:  1996-10-17     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  8706896     Medline TA:  J Laryngol Otol     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  328-38     Citation Subset:  AIM; IM    
Department of Otolaryngology, Great Ormond Street Hospital for Children NHS Trust, London, UK.
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MeSH Terms
Bone Diseases, Developmental / complications*,  surgery
Bone and Bones / pathology
Calcitriol / therapeutic use
Child, Preschool
Facial Bones / abnormalities*
Hearing Disorders / etiology*,  pathology,  surgery
Osteoblasts / pathology
Skull / abnormalities*
Tomography, X-Ray Computed
Reg. No./Substance:

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