Biomaterial Database

[Generalised cortical hyperostosis. One case (author's transl)]. 1978

A Demonchy, and J P Valat, and C A Neveur, and P L Le Chevallier

Generalised cortical hyperostosis, a case of which is reported here, was distinguished from other condensing osteopathies by Van Buchem in 1955. It is characterised by a fairly special facial dysmorphia, associated with osteocondensation of the skull, spine, flat bones and the cortex of the long bones of the limbs. There is a form with recessive transmission, which is usually associated with cranial nerve involvement by compression, and alkaline hyperphosphatasemia, whilst in the form with dominant transmission these abnormalities are not usually present. By contrast, there is often a palatal torus. A case appeared to share features of both forms. The prognosis is usually favourable, in contrast to that of osteopetrosis, a condition with which it is often confused.

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
D010022	Osteopetrosis	Excessive formation of dense trabecular bone leading to pathological fractures; OSTEITIS; SPLENOMEGALY with infarct; ANEMIA; and extramedullary hemopoiesis (HEMATOPOIESIS, EXTRAMEDULLARY).	Albers-Schoenberg Disease,Marble Bone Disease,Osteosclerosis Fragilis,Albers-Schonberg Disease,Albers-Schonberg Disease, Autosomal Dominant,Albers-Schönberg Disease,Autosomal Dominant Osteopetrosis Type 2,Congenital Osteopetrosis,Marble Bones, Autosomal Dominant,Osteopetrosis Autosomal Dominant Type 2,Osteopetrosis, Autosomal Dominant 2,Osteopetrosis, Autosomal Dominant, Type II,Osteosclerosis Fragilis Generalisata,Albers Schoenberg Disease,Albers Schonberg Disease,Albers Schonberg Disease, Autosomal Dominant,Albers Schönberg Disease,Disease, Albers-Schoenberg,Disease, Albers-Schonberg,Disease, Albers-Schönberg,Disease, Marble Bone,Osteopetroses,Osteosclerosis Fragilis Generalisatas
D003937	Diagnosis, Differential	Determination of which one of two or more diseases or conditions a patient is suffering from by systematically comparing and contrasting results of diagnostic measures.	Diagnoses, Differential,Differential Diagnoses,Differential Diagnosis
D005260	Female		Females
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000368	Aged	A person 65 years of age or older. For a person older than 79 years, AGED, 80 AND OVER is available.	Elderly