Morphologic studies in the skeletal dysplasias

scientific article published on September 1, 1979

Morphologic studies in the skeletal dysplasias is …
instance of (P31):
scholarly articleQ13442814

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P953full work available at URLhttp://ajp.amjpathol.org/cgi/content/abstract/96/3/813
https://europepmc.org/articles/PMC2042401
https://europepmc.org/articles/PMC2042401?pdf=render
https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/474720/?tool=EBI
https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/474720/pdf/?tool=EBI
P932PMC publication ID2042401
P698PubMed publication ID474720

P50authorDavid RimoinQ1176331
P2093author name stringD. L. Rimoin
D. O. Sillence
W. A. Horton
P2860cites workMetaphyseal chondrodysplasia of JansenQ78700227
Substituted naphthol AS phosphate derivatives for the localization of leukocyte alkaline phosphatase activityQ79330790
Familial bone disease resembling rickets (hereditary metaphysial dysostosis)Q79424772
Diastrophic dwarfismQ79648331
Diastrophic dwarfismQ79686032
Camptomelic dwarfismQ93700806
Camptomelic dwarfismQ93721260
[Metatrophic dwarfism]Q93758745
[Thanatophoric dwarfism (an anatomoclinical case)]Q93788438
Metaphyseal Dysostosis and the Associated Syndrome of Pancreatic Insufficiency and Blood DisordersQ93791674
Endochondral ossification in achondroplastic dwarfismQ93807209
Recessively inherited costovertebral segmentation defect with mesomelia and peculiar facies (Covesdem syndrome): A new genetic entity?Q24514927
A low-viscosity epoxy resin embedding medium for electron microscopyQ26778471
DWARFISM IN THE AMISH. II. CARTILAGE-HAIR HYPOPLASIAQ28201971
Polysyndactyly, short limbs, and genital malformations--a new syndrome?Q28239859
Chondrodysplasia punctata and maternal warfarin use during pregnancyQ28337826
Prenatal diagnosis of hypophosphatasia; genetic, biochemical, and clinical studiesQ30501788
Syndrome of pancreatic insufficiency, blood dyscrasia and metaphyseal dysplasiaQ33472457
Observations suggesting allelism of the achondroplasia and hypochondroplasia genes.Q33585515
THE SYNDROME OF PANCREATIC INSUFFICIENCY AND BONE MARROW DYSFUNCTION.Q33971711
An autosomal recessive form of lethal chondrodystrophy with severe thoracic narrowing, rhizoacromelic type of micromelia, polydacytly and genital anomaliesQ34065004
An unusual bone dysplasia: parastremmatic dwarfismQ34225840
Asphyxiating thoracic dystrophy with familial characteristicsQ34238161
Congenital blepharophimosis associated with a unique generalized myopathyQ34252527
DWARFISM IN THE AMISH I. THE ELLIS-VAN CREVELD SYNDROMEQ34258230
HEREDITARY PROGRESSIVE ARTHRO-OPHTHALMOPATHYQ34260208
Diastrophic nanismQ34539724
A NEW TYPE OF DWARFISM WITH VARIOUS BONE APLASIAS AND HYPOPLASIAS OF THE EXTREMITIES.Q34540916
Asphyxiating thoracic chondrodystrophy. Association with renal disease and evidence for possile heterozygous expressionQ34634173
Congenital bowing of the long bones in two sistersQ34696164
Fatal neonatal dwarfismQ34701362
Short rib-polydactyly syndrome type 3.Q34729543
Asphyxiating thoracic dysplasia. Clinical, radiological, and pathological information on 10 patientsQ34985985
ASPHYXIATING THROACIC DYSTROPHY. RADIOLOGICAL STUDY AND RELATION TO THE ELLIS-VAN CREVELD SYNDROMEQ76794228
SPONDYLOEPIPHYSIAL DYSPLASIA TARDA. HEREDITARY CHONDRODYSPLASIA WITH CHARACTERISTIC VERTEBRAL CONFIGURATION IN THE ADULTQ76832736
[Pathological anatomy of chondro-ectodermal dysplasia of Ellis van Creveld]Q77091766
DIASTROPHIC DWARFISM IN EARLY INFANCYQ77223884
DWARFISM IN THE AMISHQ78291658
DYSCHONDROSTEOSIS, A HEREDITABLE BONE DYSPLASIA WITH CHARACTERISTIC ROENTGENOGRAPHIC FEATURESQ78550303
[Pseudo-achondroplastic forms of spondylo-epiphyseal dysplasias.]Q78568813
[Case of congenital disease of dotted epiphyses]Q78604668
Thymic aplasia with lymphopenia, plasma cells, and normal immunoglobulins. Relation to measles virus infectionQ45826007
The epiphyseal dysplasiasQ46157441
An investigation of ageing in human costal cartilageQ46282500
Metaphyseal dysostosis and congenital pancreatic insufficiencyQ46287270
Achondroplasia--a genetic and statistical surveyQ46395631
Histochemical and ultrastructural demonstration of gamma-glutamyl transpeptidase activityQ48986289
Differential staining of acid glycosaminoglycans (mucopolysaccharides) by alcian blue in salt solutions.Q50981647
Chondrodysplasia punctata-23 cases of a mild and relatively common varietyQ52111494
The chondro-osseous dysplasia of adenosine deaminase deficiency with severe combined immunodeficiencyQ52308274
The Kniest syndromeQ52313156
Kniest disease.Q52319326
Spondylometaphyseal dysplasia (Brazilian type).Q52319571
Fine structure of skeletal dysplasia as seen in pseudoachondroplastic spondyloepiphyseal dysplasia and asphyxiating thoracic dystrophy.Q52319576
Ultrastructure of cartilage in chondrodystrophies.Q52319578
Histologic studies in the chondrodystrophies.Q52319580
Histopathology and ultrastructure of cartilage in the chondrodystrophies.Q52319588
[Disease picture of congenital bowing of long bones]Q52320080
Metaphyseal dysotosis: description of an ultrastructural defect in the epiphyseal plate chondrocytes.Q52322201
Metaphyseal dysostosis: a rough surfaced endoplasmic reticulum storage defect.Q52323469
The so-calle "Cloverleaf Skull Syndrome". A report of three cases with a discussion of its relationships with thanatophoric dwarfism and the craniostenoses.Q53757028
Familial thanatophoric dwarfism.Q53773619
Ultrastructure of benign peripheral nerve sheath tumors.Q53782774
Electron microscopic examination of cartilage in the syndrome of exocrine pancreatic insufficiency, neutropenia, metaphyseal dysostosis and dwarfism.Q53794186
The Kniest syndrome.Q53831726
[Chondrodysplasia punctata (Chondrodystrophia calcificans) II. The rhizomelic type]Q53849115
The campomelic syndrome--comments.Q53963813
Radiographic diagnosis of neonatal short-limbed dwarfismQ54001289
A proposed classification for craniofacial malformations.Q54104410
Cloverleaf skull and thanatophoric dwarfism. Report of four cases, two in the same sibshipQ35149105
Dysplasia epiphysialis punctata; report of a case and review of literature.Q35226569
Inheritance of multiple epiphyseal dysplasia, tardaQ35231793
Evidence for a hereditary factor in chondroectodermal dysplasia (Ellis-van Creveld syndrome).Q35252364
Metaphyseal dysostosis. Review of literature; study of a case with cytogenetic analysisQ35381818
Kniest syndrome with dominant inheritance and mucopolysacchariduriaQ35570932
A CASE OF THE SMITH-LEMLI-OPITZ SYNDROME OF MULTIPLE CONGENITAL ANOMALIES IN ASSOCIATION WITH DYSPLASIA EPIPHYSIALIS PUNCTATAQ35905034
Congenital stippled epiphysesQ36006970
MUCOPOLYSACCHARIDOSIS: PAPER ELECTROPHORETIC AND INFRA-RED ANALYSIS OF THE URINE IN GARGOYLISM AND MORQUIO-ULLRICH'S DISEASE.Q36060156
METAPHYSIAL DYSOSTOSIS, TYPE SCHMID.Q36060743
Diastrophic dwarfismQ36062388
Achondrogenesis type I in three sibling fetuses. Scanning and transmission electron microscopic studiesQ36077459
Science and Art in Preparing Tissues Embedded in Plastic for Light Microscopy, with Special Reference to Glycol Methacrylate, Glass Knives and Simple StainsQ38585114
Gel Electrophoretic Studies on Proteoglycans and Collagen of Abnormal Human Growth Cartilage: Proteoglycan Abnormalities in Pseudoachondroplasia and in Kniest's DiseaseQ39747795
Structure and function of the growth plateQ39782245
Histochemical characterization of the endochondral growth plate: a new approach to the study of the chondrodystrophiesQ39871048
The genetics of short statureQ39885773
Achondrogenesis: Case report and review of the literatureQ39957070
Pseudoachondroplastic dysplasia: five cases representing clinical, roentgenographic and histologic heterogeneityQ39961339
Metatropic dwarfism, the Kniest syndrome and the pseudoachondroplastic dysplasiasQ39984140
Intracytoplasmic inclusion bodies in the chondrocytes of type I lethal achondrogenesisQ40026971
A Case of Short Rib PolydactylyQ40142038
Neonatal dwarfismQ40276597
The chondrodystrophiesQ40685578
Spondyloepiphyseal dysplasiasQ40717254
A new variety of spondyloepiphyseal dysplasia characterized by punctate corneal dystrophy and abnormal dermal collagen fibrilsQ41366538
Metaphyseal and spondylometaphyseal chondrodysplasiasQ41522744
Further heterogeneity within lethal neonatal short-limbed dwarfism: The platyspondylic typesQ41635541
Heterogeneity in the campomelic syndromes. Long-and short-bone varietiesQ41714151
A radiographic study of the human fetal spine. 2. The sequence of development of ossification centres in the vertebral columnQ41869842
Pathology of chondrodysplasia punctata rhizomelic typeQ41937723
Congenital absence of the fibula and craniosynostosis in sibsQ42429840
The phenotypic variability of diastrophic dysplasiaQ43502818
A lethal form of diastrophic dwarfismQ43888117
Cloverleaf skull and micromelic dwarfism (author's transl)Q44007510
Neonatal death dwarfismQ44015080
A rare lethal bone dysplasia with recessive autosomic transmissionQ44020672
Mesomelic skeletal dysplasiasQ44058664
Reversal of protein blocking of basophilia in salt solutions: implications in the localization of polyanions using alcian blueQ44144103
Lethal short-limbed chondrodysplasia in early infancyQ44268705
Achondrogenesis in two sibsQ44315046
The syndrome of exocrine pancreatic insufficiency, neutropenia, metaphyseal dysostosis and dwarfism.Q44357128
Short rib-polydactyly (SRP) syndromes, types Majewski and Saldino-NoonanQ44508587
Unusual bone changes in thymic alymphoplasiaQ44661463
Genetic study of thanatophoric dwarfismQ44854062
New case of thanatophoric dwarfism associated with cloverleaf skullQ44948220
Chondro-osseous pathology in the chondrodystrophies.Q45193678
Morphologic observations on four cases of SED congenita.Q54231240
Stickler syndrome in a pedigree of Pierre Robin syndrome.Q54249554
Chronic neutropenia and abnormal cellular immunity in cartilage-hair hypoplasia.Q54415684
Glycol methacrylate in light microscopy: a routine method for embedding and sectioning animal tissues.Q54518538
Familial recurring thanatophoric dwarfism. A case report.Q54587604
Autosomal recessive inheritance in camptomelic dwarfism.Q54663690
DIASTROPHIC DWARFISMQ57752634
Severe thoracic dystrophy with striking micromelia, abnormal osseous development, including the spine, and multiple visceral anomaliesQ59461759
SIMULTANEOUS DIFFERENTIAL STAINING BY A CATIONIC CARBOCYANINE DYE OF NUCLEIC ACIDS, PROTEINS AND CONJUGATED PROTEINS II. CARBOHYDRATE AND SULFATED CARBOHYDRATE-CONTAINING PROTEINSQ60363246
Hyaline cartilage changes in diastrophic dwarfismQ66840785
Chondrodysplasis punctata: is maternal warfarin therapy a factor?Q66918105
Saldino-Noonan short rib-polydactyly dwarfism syndrome;Q66961398
[Acromesomelic dwarfism]Q67235474
The Dyggve-Melchior-Clausen syndromeQ67262087
A variant of campomeliaQ67348959
PseudoachondroplasiaQ67348966
Radiological signs of mucolipidosis II or I-cell disease. A study of nine casesQ67359343
The Dyggve-Melchior-Clausen syndromeQ67506797
Difficulties in the classification of the epiphyseal dysplasiasQ67513883
The lethal chondrodysplasiasQ67769458
Diastrophic dwarfismQ67769478
Metaphysial dysostosis (Jansen type). Report of a case with long follow-upQ67783499
Chondroosseous histopathology in adenosine deaminase deficient combined immunodeficiency diseaseQ67830141
Heterogeneity in the campomelic syndromes: long and short bone varietiesQ67830159
Multiple epiphyseal dysplasia in two siblings. Histological and biochemical analyses of epiphyseal plate cartilage in oneQ68406499
Spondyloepiphyseal dysplasia tarda. A case reportQ68427451
[Classification of osseous dysplasia]Q68452657
[Abnormalities of proteoglycans in growth cartilage in pseudo-achondroplasia]Q68532762
A unique rough surfaced endoplasmic reticulum inclusion in pseudoachondroplasiaQ68636805
The ultrastructure of the epiphyseal plate. II. The hypertrophic chondrocyteQ68645177
Pseudoachondroplastic dwarfism. A rough-surfaced endoplasmic reticulum storage disorderQ68660539
Two types of heritable lethal achondrogenesisQ68816525
The VSR syndrome. Studies of malformation syndromes of man XXXIIQ68817954
Chondrodysplasia punctata (rhizomelic type): case report and pathologic findingsQ68898771
Parastremmatic dwarfismQ68898792
Spondylo-epi-metaphyseal dysplasia with myotonia. A radiographic study. (Catel-Hempel syndrome, Schwarz-Jampel syndrome, Aberfeld syndrome, chondrodystrophic myotonia)Q68907267
The renal disease of thoracic asphyxiant dystrophyQ68922640
Pseudo-achondrogenesis with fracturesQ69234123
The Stickler syndromeQ69371515
[A new mesomelic type of dwarfism]Q69401351
Difficulties in Differentiation between Chondroectodermal Dysplasia (Ellis–van Creveld syndrome) and Asphyxiating Thoracic DystrophyQ69430661
Thanatophoric Dwarfism and Cloverleaf Skull (“Kleeblattschädel”)Q69473513
???Q94257905
Lethal neonatal forms of chondroectodermal dysplasia. Apropos of 5 casesQ69578169
Familial camptomelic dwarfismQ69590885
[Association of a clover-leaf skull associated with thanaphoric nanism (1st case in Italian literature)]Q69673275
Achondrogenesis within the scope of connately manifested generalized skeletal dysplasiasQ69759826
The campomelic syndrome. Congenital bowing of limbs and other skeletal and extraskeletal anomaliesQ69765267
The Schwartz-Jampel syndrome. Its clinical, physiological and histological expressionsQ69768869
Ocular involvement in chondrodysplasia punctataQ69778722
Thanatophoric dwarfism. A condition confused with achondroplasia in the neonate, with brief comments on achondrogenesis and homozygous achondroplasiaQ69868273
Letter: Thanatophoric dwarfism in tripletsQ70022691
The effect of proteolytic enzymes and hyaluronidase on the intracellular beta- and gamma-metachromatic granules and the matrix of rat epiphyseal cartilageQ70028772
Histochemical studies on tibial growing cartilage in polyepiphysial dysplasia (Feirbank disease, Müller-Ribbing-Krankheit)Q70061108
Schwartz syndrome: Myotonia with blepharophimosis and limitation of jointsQ70415509
The "campomelic" syndrome. Short life-span dwarfism with respiratory distress, hypotonia, peculiar facies, and multiple skeletal and cartilaginous deformitiesQ70500665
Statural deficiency with micromesomelia. Report of 2 familial casesQ70579750
An unusual cerebral malformation associated with thanatophoric dwarfismQ70691168
Achondroplasia and thanatophoric dwarfism in the newbornQ70727480
Metaphyseal Dysostosis of JansenQ71235057
Osteo-chondro-muscular dystrophy. A disorder manifested by multiple skeletal deformities, myotonia, and dystrophic changes in muscleQ71273184
Spondyloepiphyseal Dysplasia CongenitaQ71414178
Metatropic dwarfismQ71475050
[International nomenclature of constitutional diseases of bones]Q71518570
The tibial growing cartilage biopsy in the study of growth disturbancesQ71567029
Skeletal growth in achondroplasiaQ71591513
Cloverleaf Skull and Thanatophoric DwarfismQ71639078
Abnormality of the Hair in Cartilage-Hair HypoplasiaQ71733605
Heterogeneity of Chondrodysplasia punctataQ71760211
[The campomelic syndrome]Q71786081
HypochondroplasiaQ71807896
Lethal short-limbed dwarfism: achondrogenesis and thanatophoric dwarfismQ71854817
The Thoracic Asphyxiant Dystrophy and Renal DiseaseQ72079588
AchondroplasiaQ72217678
Hereditary dysplasia epiphysealis multiplexQ72230899
[Diastrophic dwarfism]Q72305069
Mesomelic Dwarfism of the Hypoplastic Ulna, Fibula, Mandible TypeQ72312350
[Thanatophoric dwarfism]Q72350913
Myotonia, shortness of stature, and hip dysplasia. Schwartz-Jampel syndromeQ72360043
Hereditary lymphopenic agammaglobulinemia associated with a distinctive form of short-limbed dwarfism and ectodermal dysplasiaQ72477405
Spondyloepiphysial dysplasia tarda. Four cases in childhood and adolescence, and some considerations regarding platyspondylyQ72550821
Dyschondrosteosis. The most common cause of Madelung's deformityQ72759403
Asphyxiating thoracic dystrophy of the newbornQ72815728
Tricho-rhino-phalangeal syndromeQ72969513
[Differential diagnosis between dysostosis enchondralis and chondrodystrophy]Q74028073
Dysplasia epiphysialis multiplex in three sistersQ74050086
Dysplasia epiphysialis punctata; report of a case with discussionQ74528104
Chondroectodermal dysplasia (Ellis-van Creveld syndrome); report of two casesQ74793679
Chondrodystrophia calcificans congenita; case report with autopsy findingsQ75539635
Congenital stippled epiphysesQ75836219
Multiple epiphysial dysplasia: a report of four casesQ76153543
METAPHYSEAL DYSOSTOSIS AND THIN HAIR: A "NEW" RECESSIVELY INHERITED SYNDROME?Q76690956
METAPHYSEAL DYSOSTOSIS. REPORT OF FIVE FAMILIAL AND TWO SPORADIC CASES OF A MILD TYPEQ76732787
P433issue3
P407language of work or nameEnglishQ1860
P304page(s)813-870
P577publication date1979-09-01
P1433published inThe American Journal of PathologyQ4744259
P1476titleMorphologic studies in the skeletal dysplasias
P478volume96

Reverse relations

cites work (P2860)
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