Dysplasia

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Sheila Unger - One of the best experts on this subject based on the ideXlab platform.

  • Bone Dysplasias - Acromesomelic and Acromelic Dysplasias/Dysostoses
    Bone Dysplasias, 2018
    Co-Authors: Jürgen W. Spranger, Paula W. Brill, Christine Hall, Nishimura, Andrea Superti-furga, Sheila Unger
    Abstract:

    This chapter discusses acromesomelic and acromelic Dysplasias/dysostoses and related disorders and includes discussion on acromesomelic Dysplasias (Maroteaux type), Grebe Dysplasia, brachydactyly A1, brachydactyly B, brachydactyly C, brachydactyly D, brachydactyly E, brachydactyly (Christian type), tricho-rhino-phalangeal Dysplasia (type 1), tricho-rhino-phalangeal Dysplasia (type 2), acrocapitofemoral Dysplasia, Albright hereditary osteodystrophy, acrodysostosis, geleophysic Dysplasia, acromicric Dysplasia, Myhre syndrome, and SOFT syndrome. Each discussion includes major radiographic features, major clinical findings, genetics, major differential diagnoses, and a bibliography.

  • Bone Dysplasias - Spondylo-Epi-Metaphyseal and Spondylo-Metaphyseal Dysplasias
    Bone Dysplasias, 2018
    Co-Authors: Jürgen W. Spranger, Paula W. Brill, Christine Hall, Nishimura, Andrea Superti-furga, Sheila Unger
    Abstract:

    This chapter further discusses bone Dysplasias and explores achondrogenesis type 1A, odontochondroDysplasia, Schneckenbecken Dysplasia, opsismoDysplasia, spondylometaphyseal Dysplasia (Sedaghatian type), spondyloenchondroDysplasia, SEMD (PAPSS2 type) and brachyolmia (autosomal recessive type), Dyggve-Melchior-Clausen Dysplasia, spondylometaepiphyseal Dysplasia (short limb-abnormal calcification type), spondylometaphyseal Dysplasia with cone-rod dystrophy, dyssegmental Dysplasia, Schwartz-Jampel syndrome, spondyloepiphyseal Dysplasia tarda (X-linked), aggrecan-associated skeletal Dysplasias, Wolcott-Rallison syndrome, Schimke immunoosseous Dysplasia, progressive pseudorheumatoid chondroDysplasia, spondylometaphyseal Dysplasia (corner fracture type), sponastrime Dysplasia, CODAS syndrome, N-acetyl-neuraminic acid synthase (NANS) deficiency, and spondylo-epi-metaphyseal Dysplasia with immune deficiency and developmental disability (EXTL3-deficient type). Each discussion includes major radiographic features, major clinical findings, genetics, major differential diagnoses, and a bibliography.

  • Bone Dysplasias - Spondyloepiphyseal Dysplasia Congenita and Related Type 2/Type 11 Collagen Disorders
    Bone Dysplasias, 2018
    Co-Authors: Jürgen W. Spranger, Paula W. Brill, Christine Hall, Nishimura, Andrea Superti-furga, Sheila Unger
    Abstract:

    This chapter further discusses bone Dysplasias, and explores achondrogenesis II (hypochondrogenesis), platyspondylic Dysplasia (Torrance type), spondyloepiphyseal Dysplasia congenita, spondylo-epi-metaphyseal Dysplasia (Strudwick type), Kniest Dysplasia, spondyloepiphyseal Dysplasia (Stanescu type), spondyloperipheral Dysplasia, spondyloepiphyseal Dysplasia with short metatarsals, Stickler Dysplasia, fibrochondrogenesis, and oto-spondylo-megaepiphyseal Dysplasia. Each discussion includes major clinical findings, major radiographic features, genetics, major differential diagnoses, and a bibliography.

  • Bone Dysplasias - Metatropic Dysplasia and Other TRPV4-Related Skeletal Dysplasias
    Bone Dysplasias, 2018
    Co-Authors: Jürgen W. Spranger, Paula W. Brill, Christine Hall, Nishimura, Andrea Superti-furga, Sheila Unger
    Abstract:

    This chapter discusses metatropic Dysplasia and other TRPV4-related skeletal Dysplasias, including spondyloepiphyseal Dysplasia (Maroteaux type), spondylometaphyseal Dysplasia (Kozlowski type), brachyolmia (autosomal dominant), and familial digital arthropathy with brachydactyly. Each discussion includes major radiographic features, major clinical findings, genetics, major differential diagnoses, and a bibliography.

  • Bone Dysplasias - Diastrophic Dysplasia and Related Conditions, and Dysplasias with Joint Dislocations
    Bone Dysplasias, 2018
    Co-Authors: Jürgen W. Spranger, Paula W. Brill, Christine Hall, Nishimura, Andrea Superti-furga, Sheila Unger
    Abstract:

    This chapter further discusses bone Dysplasias and includes discussion on achondrogenesis (type IB), atelosteogenesis type 2, diastrophic Dysplasia, multiple epiphyseal Dysplasia (recessive type [rMED]), Desbuquois Dysplasia, chondroDysplasia with joint dislocations (IMPAD1/gPAPP type), Catel-Manzke syndrome, chondroDysplasia with congenital joint dislocations (CHST3-type), temtamy preaxial brachydactyly syndrome (TPBS), B4GALT7 deficiency, B3GAT3 deficiency, XYLT1 deficiency, spondyloepimetaphyseal Dysplasia with joint laxity Beighton type, spondyloepimetaphyseal Dysplasia with joint laxity (leptodactylic type), pseudodiastrophic Dysplasia, and Steel syndrome. Each discussion includes major radiographic features, major clinical findings, genetics, major differential diagnoses, and a bibliography.

Jürgen W. Spranger - One of the best experts on this subject based on the ideXlab platform.

  • Bone Dysplasias - Acromesomelic and Acromelic Dysplasias/Dysostoses
    Bone Dysplasias, 2018
    Co-Authors: Jürgen W. Spranger, Paula W. Brill, Christine Hall, Nishimura, Andrea Superti-furga, Sheila Unger
    Abstract:

    This chapter discusses acromesomelic and acromelic Dysplasias/dysostoses and related disorders and includes discussion on acromesomelic Dysplasias (Maroteaux type), Grebe Dysplasia, brachydactyly A1, brachydactyly B, brachydactyly C, brachydactyly D, brachydactyly E, brachydactyly (Christian type), tricho-rhino-phalangeal Dysplasia (type 1), tricho-rhino-phalangeal Dysplasia (type 2), acrocapitofemoral Dysplasia, Albright hereditary osteodystrophy, acrodysostosis, geleophysic Dysplasia, acromicric Dysplasia, Myhre syndrome, and SOFT syndrome. Each discussion includes major radiographic features, major clinical findings, genetics, major differential diagnoses, and a bibliography.

  • Bone Dysplasias - Spondylo-Epi-Metaphyseal and Spondylo-Metaphyseal Dysplasias
    Bone Dysplasias, 2018
    Co-Authors: Jürgen W. Spranger, Paula W. Brill, Christine Hall, Nishimura, Andrea Superti-furga, Sheila Unger
    Abstract:

    This chapter further discusses bone Dysplasias and explores achondrogenesis type 1A, odontochondroDysplasia, Schneckenbecken Dysplasia, opsismoDysplasia, spondylometaphyseal Dysplasia (Sedaghatian type), spondyloenchondroDysplasia, SEMD (PAPSS2 type) and brachyolmia (autosomal recessive type), Dyggve-Melchior-Clausen Dysplasia, spondylometaepiphyseal Dysplasia (short limb-abnormal calcification type), spondylometaphyseal Dysplasia with cone-rod dystrophy, dyssegmental Dysplasia, Schwartz-Jampel syndrome, spondyloepiphyseal Dysplasia tarda (X-linked), aggrecan-associated skeletal Dysplasias, Wolcott-Rallison syndrome, Schimke immunoosseous Dysplasia, progressive pseudorheumatoid chondroDysplasia, spondylometaphyseal Dysplasia (corner fracture type), sponastrime Dysplasia, CODAS syndrome, N-acetyl-neuraminic acid synthase (NANS) deficiency, and spondylo-epi-metaphyseal Dysplasia with immune deficiency and developmental disability (EXTL3-deficient type). Each discussion includes major radiographic features, major clinical findings, genetics, major differential diagnoses, and a bibliography.

  • Bone Dysplasias - Spondyloepiphyseal Dysplasia Congenita and Related Type 2/Type 11 Collagen Disorders
    Bone Dysplasias, 2018
    Co-Authors: Jürgen W. Spranger, Paula W. Brill, Christine Hall, Nishimura, Andrea Superti-furga, Sheila Unger
    Abstract:

    This chapter further discusses bone Dysplasias, and explores achondrogenesis II (hypochondrogenesis), platyspondylic Dysplasia (Torrance type), spondyloepiphyseal Dysplasia congenita, spondylo-epi-metaphyseal Dysplasia (Strudwick type), Kniest Dysplasia, spondyloepiphyseal Dysplasia (Stanescu type), spondyloperipheral Dysplasia, spondyloepiphyseal Dysplasia with short metatarsals, Stickler Dysplasia, fibrochondrogenesis, and oto-spondylo-megaepiphyseal Dysplasia. Each discussion includes major clinical findings, major radiographic features, genetics, major differential diagnoses, and a bibliography.

  • Bone Dysplasias - Metatropic Dysplasia and Other TRPV4-Related Skeletal Dysplasias
    Bone Dysplasias, 2018
    Co-Authors: Jürgen W. Spranger, Paula W. Brill, Christine Hall, Nishimura, Andrea Superti-furga, Sheila Unger
    Abstract:

    This chapter discusses metatropic Dysplasia and other TRPV4-related skeletal Dysplasias, including spondyloepiphyseal Dysplasia (Maroteaux type), spondylometaphyseal Dysplasia (Kozlowski type), brachyolmia (autosomal dominant), and familial digital arthropathy with brachydactyly. Each discussion includes major radiographic features, major clinical findings, genetics, major differential diagnoses, and a bibliography.

  • Bone Dysplasias - Diastrophic Dysplasia and Related Conditions, and Dysplasias with Joint Dislocations
    Bone Dysplasias, 2018
    Co-Authors: Jürgen W. Spranger, Paula W. Brill, Christine Hall, Nishimura, Andrea Superti-furga, Sheila Unger
    Abstract:

    This chapter further discusses bone Dysplasias and includes discussion on achondrogenesis (type IB), atelosteogenesis type 2, diastrophic Dysplasia, multiple epiphyseal Dysplasia (recessive type [rMED]), Desbuquois Dysplasia, chondroDysplasia with joint dislocations (IMPAD1/gPAPP type), Catel-Manzke syndrome, chondroDysplasia with congenital joint dislocations (CHST3-type), temtamy preaxial brachydactyly syndrome (TPBS), B4GALT7 deficiency, B3GAT3 deficiency, XYLT1 deficiency, spondyloepimetaphyseal Dysplasia with joint laxity Beighton type, spondyloepimetaphyseal Dysplasia with joint laxity (leptodactylic type), pseudodiastrophic Dysplasia, and Steel syndrome. Each discussion includes major radiographic features, major clinical findings, genetics, major differential diagnoses, and a bibliography.

Bruce M Wenig - One of the best experts on this subject based on the ideXlab platform.

  • Squamous cell carcinoma of the upper aerodigestive tract: Dysplasia and select variants
    Modern Pathology, 2017
    Co-Authors: Bruce M Wenig
    Abstract:

    Upper aerodigestive tract (UADT) mucosal premalignant lesions include non-keratinizing and keratinizing intraepithelial Dysplasia. The keratinizing type of intraepithelial Dysplasia represents the majority of UADT Dysplasias. Historically, grading of UADT Dysplasias has followed a three tier system to include mild, moderate and severe Dysplasia. Recent recommendations have introduced a two tier grading scheme to including low-grade (ie, mild Dysplasia) and high-grade (moderate and severe Dysplasia/carcinoma in situ ) providing for better consensus among pathologists in the interpretation of such dysplastic lesions. Squamous cell carcinoma is the most common malignant neoplasm of the UADT. Several variants of squamous cell carcinoma are recognized among which the more common types include papillary squamous cell carcinoma, verrucous carcinoma, spindle cell squamous cell carcinoma (sarcomatoid carcinoma) and basaloid squamous cell carcinoma. Each of these variants of squamous cell carcinoma poses diagnostic challenges and each correlates to specific therapy and prognosis. This review details the proposed update in the grading of UADT Dysplasia to a two-tiered system as well as providing the key diagnostic features for select variants of squamous cell carcinoma.

Huw Dorkins - One of the best experts on this subject based on the ideXlab platform.

  • recessive nek9 mutation causes a lethal skeletal Dysplasia with evidence of cell cycle and ciliary defects
    Human Molecular Genetics, 2016
    Co-Authors: Jillian P Casey, Kieran Brennan, Noemie Scheidel, Paul A Mcgettigan, Paul T M Lavin, Stephen P Carter, Sean Ennis, Huw Dorkins
    Abstract:

    Skeletal Dysplasias are a clinically and genetically heterogeneous group of bone and cartilage disorders. Whilst >450 skeletal Dysplasias have been reported, 30% are genetically uncharacterized. We report two Irish Traveller families with a previously undescribed lethal skeletal Dysplasia characterized by fetal akinesia, shortening of all long bones, multiple contractures, rib anomalies, thoracic Dysplasia, pulmonary hypoplasia and protruding abdomen. Single nucleotide polymorphism homozygosity mapping and whole exome sequencing identified a novel homozygous stop-gain mutation in NEK9 (c.1489C>T; p.Arg497*) as the cause of this disorder. NEK9 encodes a never in mitosis gene A-related kinase involved in regulating spindle organization, chromosome alignment, cytokinesis and cell cycle progression. This is the first disorder to be associated with NEK9 in humans. Analysis of NEK9 protein expression and localization in patient fibroblasts showed complete loss of full-length NEK9 (107 kDa). Functional characterization of patient fibroblasts showed a significant reduction in cell proliferation and a delay in cell cycle progression. We also provide evidence to support possible ciliary associations for NEK9. Firstly, patient fibroblasts displayed a significant reduction in cilia number and length. Secondly, we show that the NEK9 orthologue in Caenorhabditis elegans, nekl-1, is almost exclusively expressed in a subset of ciliated cells, a strong indicator of cilia-related functions. In summary, we report the clinical and molecular characterization of a lethal skeletal Dysplasia caused by NEK9 mutation and suggest that this disorder may represent a novel ciliopathy.

Christine Hall - One of the best experts on this subject based on the ideXlab platform.

  • Bone Dysplasias - Acromesomelic and Acromelic Dysplasias/Dysostoses
    Bone Dysplasias, 2018
    Co-Authors: Jürgen W. Spranger, Paula W. Brill, Christine Hall, Nishimura, Andrea Superti-furga, Sheila Unger
    Abstract:

    This chapter discusses acromesomelic and acromelic Dysplasias/dysostoses and related disorders and includes discussion on acromesomelic Dysplasias (Maroteaux type), Grebe Dysplasia, brachydactyly A1, brachydactyly B, brachydactyly C, brachydactyly D, brachydactyly E, brachydactyly (Christian type), tricho-rhino-phalangeal Dysplasia (type 1), tricho-rhino-phalangeal Dysplasia (type 2), acrocapitofemoral Dysplasia, Albright hereditary osteodystrophy, acrodysostosis, geleophysic Dysplasia, acromicric Dysplasia, Myhre syndrome, and SOFT syndrome. Each discussion includes major radiographic features, major clinical findings, genetics, major differential diagnoses, and a bibliography.

  • Bone Dysplasias - Spondylo-Epi-Metaphyseal and Spondylo-Metaphyseal Dysplasias
    Bone Dysplasias, 2018
    Co-Authors: Jürgen W. Spranger, Paula W. Brill, Christine Hall, Nishimura, Andrea Superti-furga, Sheila Unger
    Abstract:

    This chapter further discusses bone Dysplasias and explores achondrogenesis type 1A, odontochondroDysplasia, Schneckenbecken Dysplasia, opsismoDysplasia, spondylometaphyseal Dysplasia (Sedaghatian type), spondyloenchondroDysplasia, SEMD (PAPSS2 type) and brachyolmia (autosomal recessive type), Dyggve-Melchior-Clausen Dysplasia, spondylometaepiphyseal Dysplasia (short limb-abnormal calcification type), spondylometaphyseal Dysplasia with cone-rod dystrophy, dyssegmental Dysplasia, Schwartz-Jampel syndrome, spondyloepiphyseal Dysplasia tarda (X-linked), aggrecan-associated skeletal Dysplasias, Wolcott-Rallison syndrome, Schimke immunoosseous Dysplasia, progressive pseudorheumatoid chondroDysplasia, spondylometaphyseal Dysplasia (corner fracture type), sponastrime Dysplasia, CODAS syndrome, N-acetyl-neuraminic acid synthase (NANS) deficiency, and spondylo-epi-metaphyseal Dysplasia with immune deficiency and developmental disability (EXTL3-deficient type). Each discussion includes major radiographic features, major clinical findings, genetics, major differential diagnoses, and a bibliography.

  • Bone Dysplasias - Spondyloepiphyseal Dysplasia Congenita and Related Type 2/Type 11 Collagen Disorders
    Bone Dysplasias, 2018
    Co-Authors: Jürgen W. Spranger, Paula W. Brill, Christine Hall, Nishimura, Andrea Superti-furga, Sheila Unger
    Abstract:

    This chapter further discusses bone Dysplasias, and explores achondrogenesis II (hypochondrogenesis), platyspondylic Dysplasia (Torrance type), spondyloepiphyseal Dysplasia congenita, spondylo-epi-metaphyseal Dysplasia (Strudwick type), Kniest Dysplasia, spondyloepiphyseal Dysplasia (Stanescu type), spondyloperipheral Dysplasia, spondyloepiphyseal Dysplasia with short metatarsals, Stickler Dysplasia, fibrochondrogenesis, and oto-spondylo-megaepiphyseal Dysplasia. Each discussion includes major clinical findings, major radiographic features, genetics, major differential diagnoses, and a bibliography.

  • Bone Dysplasias - Metatropic Dysplasia and Other TRPV4-Related Skeletal Dysplasias
    Bone Dysplasias, 2018
    Co-Authors: Jürgen W. Spranger, Paula W. Brill, Christine Hall, Nishimura, Andrea Superti-furga, Sheila Unger
    Abstract:

    This chapter discusses metatropic Dysplasia and other TRPV4-related skeletal Dysplasias, including spondyloepiphyseal Dysplasia (Maroteaux type), spondylometaphyseal Dysplasia (Kozlowski type), brachyolmia (autosomal dominant), and familial digital arthropathy with brachydactyly. Each discussion includes major radiographic features, major clinical findings, genetics, major differential diagnoses, and a bibliography.

  • Bone Dysplasias - Diastrophic Dysplasia and Related Conditions, and Dysplasias with Joint Dislocations
    Bone Dysplasias, 2018
    Co-Authors: Jürgen W. Spranger, Paula W. Brill, Christine Hall, Nishimura, Andrea Superti-furga, Sheila Unger
    Abstract:

    This chapter further discusses bone Dysplasias and includes discussion on achondrogenesis (type IB), atelosteogenesis type 2, diastrophic Dysplasia, multiple epiphyseal Dysplasia (recessive type [rMED]), Desbuquois Dysplasia, chondroDysplasia with joint dislocations (IMPAD1/gPAPP type), Catel-Manzke syndrome, chondroDysplasia with congenital joint dislocations (CHST3-type), temtamy preaxial brachydactyly syndrome (TPBS), B4GALT7 deficiency, B3GAT3 deficiency, XYLT1 deficiency, spondyloepimetaphyseal Dysplasia with joint laxity Beighton type, spondyloepimetaphyseal Dysplasia with joint laxity (leptodactylic type), pseudodiastrophic Dysplasia, and Steel syndrome. Each discussion includes major radiographic features, major clinical findings, genetics, major differential diagnoses, and a bibliography.

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