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Bone Diseases, Developmental

Known as: BONE DEVELOPMENT DISORDER, Bone Diseases, Developmental [Disease/Finding], Dysplasias, Bone 
Diseases resulting in abnormal GROWTH or abnormal MORPHOGENESIS of BONES.
National Institutes of Health

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ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPEAcrocapitofemoral DysplasiaAcromicric DysplasiaAngel shaped phalangoepiphyseal dysplasia
Connective Tissue DiseasesConnective and Soft TissueGrowth DisordersIn Blood

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2017
Review
2017
RARE BONE DISEASE ( C LANGMAN AND E SHORE , SECTION EDITORS ) Melorheostosis : a Rare Sclerosing Bone Dysplasia
Purpose of Review Melorheostosis is a rare sclerosing bone dysplasia that affects both cortical bone and adjacent soft tissue… 
Review
2005
Review
2005
Pathogenic mutations and polymorphisms in the lipoprotein receptor-related protein 5 reveal a new biological pathway for the control of bone mass
Purpose of review This review summarizes recent findings concerning the genomic variations of the lipoprotein receptor-related… 
Highly Cited
2000
Highly Cited
2000
Fronto-otopalatodigital osteodysplasia: clinical evidence for a single entity encompassing Melnick-Needles syndrome, otopalatodigital syndrome types 1 and 2, and frontometaphyseal dysplasia.
Otopalatodigital syndrome type 2 is an X-linked disorder with minimal expression in carrier females and comprises typical facial… 
2000
2000
Malignant fibrous histiocytoma: Inherited and sporadic forms have loss of heterozygosity at chromosome bands 9p21–22—evidence for a common genetic defect
Hereditary cancers represent a unique opportunity to investigate the genetic etiology of their more common sporadic forms. We… 
1990
1990
Sex steroid hormone receptors in normal and dysplastic bone disorders in children
Children with monostotic and polyostotic bone dysplasias often exhibit localized bone overgrowth. We investigated the presence of… 
1982
1982
Omphalocele and multiple severe congenital anomalies associated with osteodysplasty (Melnick-Needles syndrome).
Osteodysplasty (Melnick-Needles syndrome, MNS), a severe bone dysplasia with presumed autosomal dominant inheritance, has now… 
Highly Cited
1980
Highly Cited
1980
Osteochondroma with spinal cord compression: report of three cases.
✓ Multiple osteochondromatosis is the most common of the bone dysplasias, but neurological complications are rare… 
Review
1969
Review
1969
Radiology of bone diseases
In the preface to the second edition of this substantial work dealing with the radiology of diseases of bone, the author sets… 
Highly Cited
1967
Highly Cited
1967
The oto-palato-digital syndrome. A new symptom-complex consisting of deafness, dwarfism, cleft palate, characteristic facies, and a generalized bone dysplasia.
TAYBI, in 1962, reported a case of "generalized skeletal dysplasia with multiple anomalies," suggesting that this possibly… 
Highly Cited
1966
Highly Cited
1966
An undiagnosed bone dysplasia. A 2 family study of 4 generations and 3 generations.
A severe bone abnormality was observed in a 3 year old white female which led to a family study of 4 generations. Nine of the 14… 
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