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Dysostoses

Known as: Dysostoses [Disease/Finding], Dysostosis 
Defective bone formation involving individual bones, singly or in combination.
National Institutes of Health

Related topics

Related topics

23 relations

Narrower (13)

Achard syndromeAcrodysostosisCervical Vertebrae, Agenesis OfDiaphanospondylodysostosis
Congenital osteodystrophyConnective and Soft TissueIn BloodMaxillofacial Dysostosis

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2002
2002
Four novel mutations in the OFD1 (Cxorf5) gene in Finnish patients with oral-facial-digital syndrome 1
Oral-facial-digital syndrome type 1 (OFD1, MIM 311200) was first described by Papillon-Leage and Psaume1 in 1954 and further… 
1999
1999
Histomorphometric Analysis of the Tibial Growth Plate in a Feline Model of Mucopolysaccharidosis Type VI
Abstract. Mucopolysaccharidosis type VI (MPS VI) is a genetically inherited lysosomal storage disorder. Severely affected… 
Highly Cited
1997
Highly Cited
1997
Effect of enzyme replacement therapy on bone formation in a feline model of mucopolysaccharidosis type VI.
Highly Cited
1996
Highly Cited
1996
Delineation of a contiguous gene syndrome with multiple exostoses, enlarged parietal foramina, craniofacial dysostosis, and mental retardation, caused by deletions in the short arm of chromosome 11.
A contiguous gene syndrome due to deletions of the proximal short arm of chromosome 11 is described in eight patients belonging… 
Highly Cited
1985
Highly Cited
1985
Pattern recognition in bone dysplasias.
Genetically different bone dysplasias may manifest themselves in similar patterns of skeletal abnormalities. It is proposed to… 
Review
1983
Review
1983
Differential diagnosis of Nager acrofacial dysostosis syndrome: report of four patients with Nager syndrome and discussion of other related syndromes.
We report four patients with Nager acrofacial dysostosis (AFD) syndrome and review all previous cases. This leads to an extended… 
Highly Cited
1980
Highly Cited
1980
A severe infantile sialidosis: clinical, biochemical, and microscopic features.
Highly Cited
1972
Highly Cited
1972
A new type of mucolipidosis with -galactosidase deficiency and glycopeptiduria.
Clinical, biochemical and electron microscopic studies on a patient of a new type of mucolipidosis are described. The patient is… 
Highly Cited
1972
Highly Cited
1972
Plastic Surgery in Infancy and Childhood
Part 1 Head and neck: cleft lip and palate orthodontics in cleft lip and palate facial clefts deformities of the jaws lips… 
Highly Cited
1955
Highly Cited
1955
Mandibulo-facial dysostosis.
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