Van Buchem disease: lifetime evolution of radioclinical features. 2003

Filip M Vanhoenacker, and Wendy Balemans, and Gregorius J Tan, and Frederik G Dikkers, and Arthur M De Schepper, and Danny G P Mathysen, and Anja Bernaerts, and Wim Van Hul
Department of Radiology, University Hospital Antwerp, Wilrijkstraat 10, 2650 Edegem, Belgium. filip.vanhoenacker@planetinternet.be

OBJECTIVE The purpose of this study was to evaluate the lifetime evolution of the radioclinical features in a large family with van Buchem disease. METHODS The study population included 13 patients, ranging between 6 and 69 years. The evolution of the clinical features has been assessed by retrospective analysis of the clinical records of the patients. The age-related evolution of the cortical hyperostosis and defective modeling at the tubular bones was evaluated by morphometric analysis of hand films in 9 patients, compared with 9 control individuals. Progression of sclerosis of the craniofacial bones was evaluated by analysis of the skull radiographs of eleven van Buchem patients, taken at different age. CONCLUSIONS Radioclinical features, including sclerosis of the cranial and tubular bones and cranial nerve deficit, become more prominent in older patients. Defective modeling of tubular bones, cortical thickness and medullary width progress with age. Radioclinical abnormalities of van Buchem patients become more prominent in older patients, which suggests that the van Buchem gene is very actively involved in bone metabolism throughout life. Morphometric analysis of the plain films supports the hypothesis that the physiological function of the van Buchem gene is to inhibit bone formation and possibly to regulate bone remodeling.

UI MeSH Term Description Entries
D006958 Hyperostosis, Cortical, Congenital A disease of young infants characterized by soft tissue swellings over the affected bones, fever, and irritability, and marked by periods of remission and exacerbation. (Dorland, 27th ed) Caffey-De Toni-Silvermann Syndrome,Cortical Hyperostosis, Congenital,Infantile Cortical Hyperostosis,Caffey Disease,Congenital Hyperostosis, Cortical,Cortical Congenital Hyperostosis,Familial Caffey's Disease,Familial Infantile Cortical Hyperostosis,Caffey De Toni Silvermann Syndrome,Caffey's Disease, Familial,Congenital Cortical Hyperostoses,Congenital Cortical Hyperostosis,Congenital Hyperostoses, Cortical,Cortical Congenital Hyperostoses,Cortical Hyperostoses, Congenital,Cortical Hyperostoses, Infantile,Cortical Hyperostosis, Infantile,Disease, Caffey,Disease, Familial Caffey's,Familial Caffey Disease,Familial Caffeys Disease,Hyperostoses, Congenital Cortical,Hyperostoses, Cortical Congenital,Hyperostoses, Infantile Cortical,Hyperostosis, Congenital Cortical,Hyperostosis, Cortical Congenital,Hyperostosis, Infantile Cortical,Infantile Cortical Hyperostoses,Syndrome, Caffey-De Toni-Silvermann
D008297 Male Males
D008663 Metacarpus The region of the HAND between the WRIST and the FINGERS.
D008875 Middle Aged An adult aged 45 - 64 years. Middle Age
D009426 Netherlands Country located in EUROPE. It is bordered by the NORTH SEA, BELGIUM, and GERMANY. Constituent areas are Aruba, Curacao, and Sint Maarten, formerly included in the NETHERLANDS ANTILLES. Holland,Kingdom of the Netherlands
D010375 Pedigree The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition. Family Tree,Genealogical Tree,Genealogic Tree,Genetic Identity,Identity, Genetic,Family Trees,Genealogic Trees,Genealogical Trees,Genetic Identities,Identities, Genetic,Tree, Family,Tree, Genealogic,Tree, Genealogical,Trees, Family,Trees, Genealogic,Trees, Genealogical
D001848 Bone Diseases, Developmental Diseases resulting in abnormal GROWTH or abnormal MORPHOGENESIS of BONES. Bone Dysplasias,Developmental Bone Disease,Bone Disease, Developmental,Bone Dysplasia,Developmental Bone Diseases,Dysplasia, Bone,Dysplasias, Bone
D002648 Child A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL. Children
D003966 Camurati-Engelmann Syndrome An autosomal dominant form of dysplasia that is characterized by progressive thickening of diaphyseal cortex of long bones. Mutations in the gene that encodes TRANSFORMING GROWTH FACTOR BETA1 are one cause of this disorder. Diaphyseal Dysplasia, Progressive,Engelmann's Disease,Camurati-Engelmann Disease,Diaphyseal Dysplasia 1, Progressive,Diaphyseal Hyperostosis,Engelmann Disease,Progressive Diaphyseal Dysplasia,Camurati Engelmann Disease,Camurati Engelmann Syndrome,Diaphyseal Dysplasias, Progressive,Diaphyseal Hyperostoses,Dysplasia, Progressive Diaphyseal,Dysplasias, Progressive Diaphyseal,Hyperostoses, Diaphyseal,Hyperostosis, Diaphyseal
D005155 Facial Nerve Diseases Diseases of the facial nerve or nuclei. Pontine disorders may affect the facial nuclei or nerve fascicle. The nerve may be involved intracranially, along its course through the petrous portion of the temporal bone, or along its extracranial course. Clinical manifestations include facial muscle weakness, loss of taste from the anterior tongue, hyperacusis, and decreased lacrimation. Acquired Facial Neuropathy,Cranial Nerve VII Diseases,Facial Myokymia,Facial Neuropathy,Geniculate Ganglionitis,Cranial Nerve VII Disorders,Facial Nerve Disorders,Facial Nerve Motor Disorders,Facial Nerve Sensory Disorders,Facial Neuritis,Familial Facial Neuropathy,Motor Disorders, Facial Nerve,Sensory Disorders, Facial Nerve,Seventh Cranial Nerve Diseases,Acquired Facial Neuropathies,Disease, Facial Nerve,Diseases, Facial Nerve,Disorder, Facial Nerve,Disorders, Facial Nerve,Facial Myokymias,Facial Nerve Disease,Facial Nerve Disorder,Facial Neuritides,Facial Neuropathies,Facial Neuropathies, Acquired,Facial Neuropathies, Familial,Facial Neuropathy, Acquired,Facial Neuropathy, Familial,Familial Facial Neuropathies,Ganglionitides, Geniculate,Ganglionitis, Geniculate,Geniculate Ganglionitides,Myokymia, Facial,Myokymias, Facial,Neuritides, Facial,Neuritis, Facial,Neuropathies, Facial,Neuropathies, Familial Facial,Neuropathy, Facial,Neuropathy, Familial Facial

Related Publications

Filip M Vanhoenacker, and Wendy Balemans, and Gregorius J Tan, and Frederik G Dikkers, and Arthur M De Schepper, and Danny G P Mathysen, and Anja Bernaerts, and Wim Van Hul
August 1977, Postgraduate medical journal,
Filip M Vanhoenacker, and Wendy Balemans, and Gregorius J Tan, and Frederik G Dikkers, and Arthur M De Schepper, and Danny G P Mathysen, and Anja Bernaerts, and Wim Van Hul
February 1997, AJNR. American journal of neuroradiology,
Filip M Vanhoenacker, and Wendy Balemans, and Gregorius J Tan, and Frederik G Dikkers, and Arthur M De Schepper, and Danny G P Mathysen, and Anja Bernaerts, and Wim Van Hul
April 2013, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research,
Filip M Vanhoenacker, and Wendy Balemans, and Gregorius J Tan, and Frederik G Dikkers, and Arthur M De Schepper, and Danny G P Mathysen, and Anja Bernaerts, and Wim Van Hul
January 2012, BoneKEy reports,
Filip M Vanhoenacker, and Wendy Balemans, and Gregorius J Tan, and Frederik G Dikkers, and Arthur M De Schepper, and Danny G P Mathysen, and Anja Bernaerts, and Wim Van Hul
May 1988, Annals of plastic surgery,
Filip M Vanhoenacker, and Wendy Balemans, and Gregorius J Tan, and Frederik G Dikkers, and Arthur M De Schepper, and Danny G P Mathysen, and Anja Bernaerts, and Wim Van Hul
June 2009, Journal of dental research,
Filip M Vanhoenacker, and Wendy Balemans, and Gregorius J Tan, and Frederik G Dikkers, and Arthur M De Schepper, and Danny G P Mathysen, and Anja Bernaerts, and Wim Van Hul
December 2017, Medicine,
Filip M Vanhoenacker, and Wendy Balemans, and Gregorius J Tan, and Frederik G Dikkers, and Arthur M De Schepper, and Danny G P Mathysen, and Anja Bernaerts, and Wim Van Hul
November 1977, Radiology,
Filip M Vanhoenacker, and Wendy Balemans, and Gregorius J Tan, and Frederik G Dikkers, and Arthur M De Schepper, and Danny G P Mathysen, and Anja Bernaerts, and Wim Van Hul
October 2009, Radiology,
Filip M Vanhoenacker, and Wendy Balemans, and Gregorius J Tan, and Frederik G Dikkers, and Arthur M De Schepper, and Danny G P Mathysen, and Anja Bernaerts, and Wim Van Hul
June 2011, The journal of the Royal College of Physicians of Edinburgh,
Copied contents to your clipboard!