Sulfate Transporter Group

2012 ◽  
pp. 47-57
Author(s):  
Jürgen W. Spranger ◽  
Paula W. Brill ◽  
Gen Nishimura ◽  
Andrea Superti-Furga ◽  
Sheila Unger
Keyword(s):  
Clinical Findings ◽  
Differential Diagnoses ◽  
Multiple Epiphyseal Dysplasia ◽  
Type Ii ◽  
Sulfate Transporter ◽  
Diastrophic Dysplasia ◽  
Radiographic Features ◽  
Recessive Type ◽  
Epiphyseal Dysplasia ◽  
Achondrogenesis Type

Chapter 12 covers sulfate transporter group (achondrogenesis type 1B (MIM 600972) atelosteogenesis type II (MIM 256050), diastrophic dysplasia (MIM222600) multiple epiphyseal dysplasia, recessive type (RMED; MIM 226900), including major clinical findings, radiographic features, and differential diagnoses.

Pseudoachondroplasia and Dominant Epiphyseal Dysplasia

2018 ◽  
pp. 23-32
Author(s):  
Jürgen W. Spranger ◽  
Paula W. Brill ◽  
Christine Hall ◽  
Gen Nishimura ◽  
Andrea Superti-Furga ◽  
...  
Keyword(s):  
Clinical Findings ◽  
Differential Diagnoses ◽  
Multiple Epiphyseal Dysplasia ◽  
Radiographic Features ◽  
Epiphyseal Dysplasia

This chapter discusses pseudoachondroplasia and dominant epiphyseal dysplasia and explores pseudoachondroplasia, and multiple epiphyseal dysplasia. Each discussion includes major clinical findings, major radiographic features, genetics, major differential diagnoses, and a bibliography.

Filamin-Associated Dysplasias/Dysostoses and Related Disorders

2018 ◽  
pp. 307-350
Author(s):  
Jürgen W. Spranger ◽  
Paula W. Brill ◽  
Christine Hall ◽  
Gen Nishimura ◽  
Andrea Superti-Furga ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Clinical Findings ◽  
Differential Diagnoses ◽  
Type I ◽  
Syndrome Type ◽  
Type Ii ◽  
Radiographic Features ◽  
Larsen Syndrome ◽  
Otopalatodigital Syndrome

This chapter discusses filamin-associated dysplasias/dysostoses and related disorders and includes discussion on otopalatodigital syndrome type 1, otopalatodigital syndrome type II, Melnick-Needles osteodysplasty, frontometaphyseal dysplasia, boomerang dysplasia/atelosteogenesis type I, atelosteogenesis type III, Larsen syndrome (autosomal dominant), spondylocarpotarsal synostosis syndrome, and Frank-ter Haar syndrome. Each discussion includes major radiographic features, major clinical findings, genetics, major differential diagnoses, and a bibliography.

Diastrophic Dysplasia and Related Conditions, and Dysplasias with Joint Dislocations

2018 ◽  
pp. 245-306
Author(s):  
Jürgen W. Spranger ◽  
Paula W. Brill ◽  
Christine Hall ◽  
Gen Nishimura ◽  
Andrea Superti-Furga ◽  
...  
Keyword(s):  
Clinical Findings ◽  
Joint Laxity ◽  
Diastrophic Dysplasia ◽  
Desbuquois Dysplasia ◽  
Recessive Type ◽  
Joint Dislocations ◽  
Bone Dysplasias ◽  
Epiphyseal Dysplasia ◽  
Spondyloepimetaphyseal Dysplasia

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.

Type 2 Collagen Group

2012 ◽  
pp. 127-153 ◽  
Author(s):  
Jürgen W. Spranger ◽  
Paula W. Brill ◽  
Gen Nishimura ◽  
Andrea Superti-Furga ◽  
Sheila Unger
Keyword(s):  
Autosomal Dominant ◽  
Clinical Findings ◽  
Differential Diagnoses ◽  
Spondyloepiphyseal Dysplasia ◽  
Collagen Group ◽  
Spondyloepiphyseal Dysplasia Congenita ◽  
Epiphyseal Dysplasia ◽  
Achondrogenesis Type ◽  
Kniest Dysplasia

Chapter 24 covers disorders of the Type 2 collegen group (achondrogenesis type 2 (MIM100610), hypochondrogenesis (MIM 200610), spondyloepiphyseal dysplasia Torrance type (MIM 151210), spondyloepiphyseal dysplasia congenita (MIM 183900), Kniest dysplasia (MIM 256550), spondyloperipheral dysplasia (MIM 271700), spondyloepiphyseal dysplasia with metatarsal shortening (MIM 609162), autosomal dominant spondyloarthropathy (MIM 604864), vitreoretinopathy with phalangeal epiphyseal dysplasia (MIM 120140.0037), Stickler dysplasia (MIM 108300, 604841)), including major clinical findings, radiographic features, and differential diagnoses.

Trichorhinophalangeal Syndrome, Type II (Mim 150230)

2012 ◽  
pp. 342-343
Author(s):  
Jürgen W. Spranger ◽  
Paula W. Brill ◽  
Gen Nishimura ◽  
Andrea Superti-Furga ◽  
Sheila Unger
Keyword(s):  
Clinical Findings ◽  
Differential Diagnoses ◽  
Syndrome Type ◽  
Type Ii ◽  
Radiographic Features ◽  
Trichorhinophalangeal Syndrome

Chapter 74 covers trichorhinophalangeal syndrome, Type 2 (MIM 150230), including major clinical findings, radiographic features, and differential diagnoses.

Achondrogenesis Type 1A (Mim 200600)

2012 ◽  
pp. 255-256
Author(s):  
Jürgen W. Spranger ◽  
Paula W. Brill ◽  
Gen Nishimura ◽  
Andrea Superti-Furga ◽  
Sheila Unger
Keyword(s):  
Clinical Findings ◽  
Differential Diagnoses ◽  
Radiographic Features ◽  
Achondrogenesis Type

Chapter 51 covers achondrogenesis type 1A (MIM200600), including major clinical findings, radiographic features, and differential diagnoses.

Disorders with Defective Joint Formation

2018 ◽  
pp. 889-896
Author(s):  
Jürgen W. Spranger ◽  
Paula W. Brill ◽  
Christine Hall ◽  
Gen Nishimura ◽  
Andrea Superti-Furga ◽  
...  
Keyword(s):  
Clinical Findings ◽  
Differential Diagnoses ◽  
Joint Formation ◽  
Radiographic Features

This chapter disorders with defective joint formation and includes discussion on multiple synostoses syndrome and Liebenberg syndrome. Each discussion includes major radiographic features, major clinical findings, genetics, major differential diagnoses, and a bibliography.

Overgrowth/Accelerated Skeletal Maturation Syndromes (Selected)

2018 ◽  
pp. 815-828
Author(s):  
Jürgen W. Spranger ◽  
Paula W. Brill ◽  
Christine Hall ◽  
Gen Nishimura ◽  
Andrea Superti-Furga ◽  
...  
Keyword(s):  
Clinical Findings ◽  
Differential Diagnoses ◽  
Skeletal Maturation ◽  
Radiographic Features ◽  
Overgrowth Syndrome ◽  
Weaver Syndrome

This chapter discusses overgrowth/accelerated skeletal maturation syndromes and includes discussion on Marshall-Smith syndrome, Moreno-Nishimura-Schmidt overgrowth syndrome, Weaver syndrome, and CNP-overexpression overgrowth syndrome. Each discussion includes major radiographic features, major clinical findings, genetics, major differential diagnoses, and a bibliography.

Polytopic Dysostoses

2018 ◽  
pp. 757-794
Author(s):  
Jürgen W. Spranger ◽  
Paula W. Brill ◽  
Christine Hall ◽  
Gen Nishimura ◽  
Andrea Superti-Furga ◽  
...  
Keyword(s):  
Clinical Findings ◽  
Differential Diagnoses ◽  
Cleidocranial Dysplasia ◽  
Campomelic Dysplasia ◽  
Radiographic Features ◽  
Metaphyseal Dysplasia ◽  
Bone Dysplasias ◽  
Nail Patella Syndrome ◽  
Patellar Dysplasia

This chapter further discusses bone dysplasias and includes discussion on campomelic dysplasia, cousin dysplasia, spondylo-megaepiphyseal-metaphyseal dysplasia, cleidocranial dysplasia, Yunis-Varon syndrome, CDAGS, nail-patella syndrome, ischio-pubic-patellar dysplasia, ischiospinal dysostosis, and cerebro-costo-mandibular syndrome. Each discussion includes major radiographic features, major clinical findings, genetics, major differential diagnoses, and a bibliography.

Acromesomelic and Acromelic Dysplasias/Dysostoses

2018 ◽  
pp. 443-496
Author(s):  
Jürgen W. Spranger ◽  
Paula W. Brill ◽  
Christine Hall ◽  
Gen Nishimura ◽  
Andrea Superti-Furga ◽  
...  
Keyword(s):  
Clinical Findings ◽  
Differential Diagnoses ◽  
Radiographic Features ◽  
Albright Hereditary Osteodystrophy ◽  
Grebe Dysplasia ◽  
Myhre Syndrome ◽  
Acromicric Dysplasia

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.

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