Craniodiaphyseal dysplasia, a very rare form of bone dysplasia
Introduction: Craniodiaphyseal dysplasia is a very rare autosomal recessive disorder which is typically presented in infancy and characterised by severe form of bone dysplasia, massive bone sclerosis and hyperostosis. This process of bone changes characteristically affects the facial bones resulting...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
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Elsevier
2020-03-01
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| Series: | Oral and Maxillofacial Surgery Cases |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2214541919300392 |
| _version_ | 1828944025584926720 |
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| author | Bayar Ahmed Qasim Ayad Ahmad Mohammed Amer A. Balata Sardar Hassan Arif Laween Omar Musa |
| author_facet | Bayar Ahmed Qasim Ayad Ahmad Mohammed Amer A. Balata Sardar Hassan Arif Laween Omar Musa |
| author_sort | Bayar Ahmed Qasim |
| collection | DOAJ |
| description | Introduction: Craniodiaphyseal dysplasia is a very rare autosomal recessive disorder which is typically presented in infancy and characterised by severe form of bone dysplasia, massive bone sclerosis and hyperostosis. This process of bone changes characteristically affects the facial bones resulting in severe facial deformity. Case presentation: A-25-year-old girl who was diagnosed as a case of juvenile Paget's disease for 20 years presented with blurred vision, chronic headache and recurrent attacks of sinusitis. Re-evaluation of the patient was done and gene study was done which excluded Paget's disease. On the basis of her clinical examination and after exclusion of other possible causes the case was diagnosed as craniodiaphyseal dysplasia. Conclusion: Craniodiaphyseal dysplasia causes progressive facial bone enlargement and deformity with narrowing of the orifices of sinuses and compression on various cranial nerves due to narrowing of the cranial nerve openings. Multidisciplinary team is usually needed for the diagnosis and the management of this unusual diseases. Gene study must be done to confirm or exclude other rare genetic disorders. |
| first_indexed | 2024-12-14T04:24:39Z |
| format | Article |
| id | doaj.art-d867d6e02e724337b9edcd9cf407531f |
| institution | Directory Open Access Journal |
| issn | 2214-5419 |
| language | English |
| last_indexed | 2024-12-14T04:24:39Z |
| publishDate | 2020-03-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Oral and Maxillofacial Surgery Cases |
| spelling | doaj.art-d867d6e02e724337b9edcd9cf407531f2022-12-21T23:17:13ZengElsevierOral and Maxillofacial Surgery Cases2214-54192020-03-0161Craniodiaphyseal dysplasia, a very rare form of bone dysplasiaBayar Ahmed Qasim0Ayad Ahmad Mohammed1Amer A. Balata2Sardar Hassan Arif3Laween Omar Musa4Department of Medicine, College of Medicine, University of Duhok, Kurdistan Region, IraqDepartment of Surgery, College of Medicine, University of Duhok, Kurdistan Region, Iraq; Corresponding author. Azadi Teaching Hospital, 8 Nakhoshkhana Road, 1014 AM, Duhok, Iraq.Department of Haematology, College of Medicine, University of Duhok, Kurdistan Region, IraqDepartment of Surgery, College of Medicine, University of Duhok, Kurdistan Region, IraqDepartment of Surgery, College of Medicine, University of Duhok, Kurdistan Region, IraqIntroduction: Craniodiaphyseal dysplasia is a very rare autosomal recessive disorder which is typically presented in infancy and characterised by severe form of bone dysplasia, massive bone sclerosis and hyperostosis. This process of bone changes characteristically affects the facial bones resulting in severe facial deformity. Case presentation: A-25-year-old girl who was diagnosed as a case of juvenile Paget's disease for 20 years presented with blurred vision, chronic headache and recurrent attacks of sinusitis. Re-evaluation of the patient was done and gene study was done which excluded Paget's disease. On the basis of her clinical examination and after exclusion of other possible causes the case was diagnosed as craniodiaphyseal dysplasia. Conclusion: Craniodiaphyseal dysplasia causes progressive facial bone enlargement and deformity with narrowing of the orifices of sinuses and compression on various cranial nerves due to narrowing of the cranial nerve openings. Multidisciplinary team is usually needed for the diagnosis and the management of this unusual diseases. Gene study must be done to confirm or exclude other rare genetic disorders.http://www.sciencedirect.com/science/article/pii/S2214541919300392 |
| spellingShingle | Bayar Ahmed Qasim Ayad Ahmad Mohammed Amer A. Balata Sardar Hassan Arif Laween Omar Musa Craniodiaphyseal dysplasia, a very rare form of bone dysplasia Oral and Maxillofacial Surgery Cases |
| title | Craniodiaphyseal dysplasia, a very rare form of bone dysplasia |
| title_full | Craniodiaphyseal dysplasia, a very rare form of bone dysplasia |
| title_fullStr | Craniodiaphyseal dysplasia, a very rare form of bone dysplasia |
| title_full_unstemmed | Craniodiaphyseal dysplasia, a very rare form of bone dysplasia |
| title_short | Craniodiaphyseal dysplasia, a very rare form of bone dysplasia |
| title_sort | craniodiaphyseal dysplasia a very rare form of bone dysplasia |
| url | http://www.sciencedirect.com/science/article/pii/S2214541919300392 |
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