Hostname: page-component-586b7cd67f-t7czq Total loading time: 0 Render date: 2024-11-23T03:01:29.949Z Has data issue: false hasContentIssue false
  • English
  • Français

Craniometaphyseal and craniodiaphyseal dysplasia, head and neck manifestations and management

Published online by Cambridge University Press:  29 June 2007

Aurelia Richards ,
Caroline Brain ,
M. J. Dillon  and
C. M. Bailey
Aurelia Richards*
Affiliation:
Department of Otolaryngology, Great Ormond Street Hospital for Children NHS Trust, London, UK
Caroline Brain
Affiliation:
Department of Medicine, Great Ormond Street Hospital for Children NHS Trust, London, UK
M. J. Dillon
Affiliation:
Department of Medicine, Great Ormond Street Hospital for Children NHS Trust, London, UK
C. M. Bailey
Affiliation:
Department of Otolaryngology, Great Ormond Street Hospital for Children NHS Trust, London, UK
*
Address for correspondence: Miss Aurelia Richards, F.R.C.S., Department of Otolaryngology, Guy's Hospital, St Thomas' Street, London SE1 9RT. Tax: 0171-955-8878
Get access Rights & Permissions [Opens in a new window]

Abstract

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 (Cole et al., 1988; Fanconi et al., 1988; Key et al., 1988).

Keywords

Craniometaphyseal dysplasiaCraniodiaphyseal dysplasiaDeafnessChoanal atresiaNasal obstructionFacial palsyOsteoblastCalcitriol
Type
Main Articles
Information
The Journal of Laryngology & Otology , Volume 110 , Issue 4 , April 1996 , pp. 328 - 338
Copyright
Copyright © JLO (1984) Limited 1996

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

Footnotes

Presented at the British Association of Paediatric Otolaryngologists meeting. October 1994, London.

References

Bonucci, E., Menichini, G., Scarfo, G. B., Tonaccini, D. (1977) Histologic, microradiographic and electron microscopic investigations of bone tissue in a case of craniodiaphyseal dysplasia. Virchows Archiv fur Pathologische Anatomie 373: 167–175.CrossRefGoogle Scholar
Cole, D. E., Cohen, M. M. Jr (1988) A new look at craniometaphyseal dysplasia. Journal of Pediatrics 112(4): 577–579.CrossRefGoogle Scholar
Fanconi, S., Fischer, J. A., Wieland, P., Giedion, A., Boltshauser, E., Olah, A. J., Landolt, A. M., Prader, A. (1988) Craniometaphyseal dysplasia with increased bone turnover and secondary hyperparathyroidism: Therapeutic effect of calcitonin. Journal of Pediatrics 112(4): 587–590.CrossRefGoogle ScholarPubMed
Gorlin, R. J., Spranger, J., Koszalka, M. F. (1969) Genetic craniotubular bone dysplasias and hyperostoses. A critical analysis. Birth Defects 5(4): 79–95.Google Scholar
Gorlin, R. J., Cohen, N. M., Levin, L. S. (1990) Syndromes of the Head and Neck: Craniotubular Bone Disorders. 3rd Edition, Oxford University Press, New York, 229–231.Google Scholar
Greenspan, A. (1991) Sclerosing bone dysplasias—a target site approach. Skeletal Radiology 20(8): 561–583.CrossRefGoogle ScholarPubMed
Halliday, J. (1949) A rare case of bone dysplasia. British Journal of Surgery 37: 52–63.CrossRefGoogle Scholar
Jackson, W. P. U., Albright, F., Dewry, G., Hanelin, J., Rubin, M. I. (1954) Metaphyseal dysplasia, epiphyseal dysplasia, diaphyseal dysplasia and related conditions. Archives of Internal Medicine 94: 871–885.Google ScholarPubMed
Joseph, R., Lefebvre, J., Guy, E., Job, J. C. (1958) Dysplasie cranio-diaphysaire progressive: Ses relations avec la dysplasie progressive de camurati-Engelman. Annals of Radiology 1: 477–490.Google Scholar
Kaitila, I., Stewart, R. E., Landow, E., Lachman, R., Rimoin, D. L. (1975) Craniodiaphyseal dysplasia. Birth Defects 11(6): 359–361.Google ScholarPubMed
Key, L. L. Jr, Volberg, F., Baron, R., Anast, C. S. (1988) Treatment of craniometaphyseal dysplasia with high dose calcitriol. Journal of Pediatrics 112(4): 583–586.CrossRefGoogle Scholar
Kietzer, G., Paparella, M. M. (1969) Otolaryngological disorders in craniometaphyseal dysplasia. Laryngoscope 79(5): 921–941.CrossRefGoogle ScholarPubMed
Levy, M. H., Kozlowski, K. (1987) Cranio-diaphyseal dysplasia. Australasian Radiology 31: 431–435.CrossRefGoogle ScholarPubMed
Macpherson, R. I. (1974) Craniodiaphyseal dysplasia, a disease or group of diseases? (Case 1). Journal de L Association Canadienne des Radiologistes 25(1): 22–23.Google ScholarPubMed
Martin, F. W. (1978) Otorhinolaryngological aspects of craniometaphyseal dysplasia. Clinical Otolaryngology 67–76.Google Scholar
Millard, D. R., Maisels, D. O., Batstone, J. H., Yates, B. W. (1967) Craniofacial surgery in craniometaphyseal dysplasia. American Journal of Surgery 113 (5): 615–612.CrossRefGoogle ScholarPubMed
Morgan, D. W., Aldren, C., Hoare, T. J. (1990) Hearing loss due to cranio–metaphyseal dysplasia. Journal of Laryngology and Otology 807–808.CrossRefGoogle Scholar
Munro, I. R., Lauritzen, C. G., Hoffman, H. J., Sinclair, W. J. (1983) Craniometaphyseal Dysplasia-Correction of a Giant Head. (Williams, H. B., ed), Transactions of the Eighth International Congress of Plastic and Reconstructive Surgery, McGill University Press, Montreal, pp 323–325.Google Scholar
Puliafito, C. A., Wray, S. H., Murray, J. E., Boger, W. P. (1981) Optic atrophy and visual loss in craniometaphyseal dysplasia. American Journal of Ophthalmology 92 (5): 696–701.CrossRefGoogle ScholarPubMed
Roodman, G. D., Ibbotson, K. J., MacDonald, B. R., Kuehl, T. J., Mundy, G. R. (1985) 1, 25-Dihydroxyvitamin D3 causes formation of multinucleated cells with several osteoelast characteristics in cultures of primate marrow. Proceedings of the National Academy of Sciences USA 8213–8217.CrossRefGoogle ScholarPubMed
Rubin, P. (1964) Dynamic Classification of Bone Dysplasias. Year Book Publishers, Chicago, USA p 410.Google ScholarPubMed
Shafer, B. M., Hall, C. M., Jones, B. M. (1990) Craniometaphyseal and diaphyseal dysplasia: diagnosis and challenges in craniofacial surgery (presented at the European Association of Plastic Surgeons, 1991 Spain), (unpublished).Google Scholar
Shea, J., Gerbe, R., Ayani, N. (1981) Craniometaphyseal dysplasia: the first successful surgical treatment for associated hearing loss. Laryngoscope 91(8): 1369–1374.CrossRefGoogle ScholarPubMed
Yamamoto, T., Kurihara, N., Yamaoka, K., Ozono, K., Okada, M., Yamamoto, K., Matsumoto, S., Michigami, T., Ono, J., Okada, S. (1993) Bone marrow-derived osteoclastlike cells from a patient with craniometaphyseal dysplasia lack expression of osteoclast-reactive vacuolar proton pump. Journal of Clinical Investigation 91(1): 362–367.CrossRefGoogle ScholarPubMed