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.

Kenny-Caffey syndrome (Mim 244460 [Type I]; 127000 [Type 2])

2012 ◽  
pp. 389-391
Author(s):  
Jürgen W. Spranger ◽  
Paula W. Brill ◽  
Gen Nishimura ◽  
Andrea Superti-Furga ◽  
Sheila Unger
Keyword(s):  
Clinical Findings ◽  
Differential Diagnoses ◽  
Type I ◽  
Radiographic Features

Chapter 89 covers Kenny-Caffey syndrome (MIM 244460 [type 1], 127000 [type 2]), including major clinical findings, radiographic features, and differential diagnoses.

Filamin B Group

2012 ◽  
pp. 112-124
Author(s):  
Jürgen W. Spranger ◽  
Paula W. Brill ◽  
Gen Nishimura ◽  
Andrea Superti-Furga ◽  
Sheila Unger
Keyword(s):  
Autosomal Dominant ◽  
Clinical Findings ◽  
Differential Diagnoses ◽  
Radiographic Features ◽  
Larsen Syndrome ◽  
Filamin B

Chapter 23 covers disorders of the Filamin B group (Boomerang dysplasia/atelosteogenesis type 1 (MIM 112310, 108720), atelosteogenesis type 2 (MIM 108721), Larsen syndrome, autosomal dominant (MIM 150250), spondylocarpotarsal synostosis syndrome (MIM 272460), including major clinical findings, radiographic features, and differential diagnoses.

Filamin A Group

2012 ◽  
pp. 93-111
Author(s):  
Jürgen W. Spranger ◽  
Paula W. Brill ◽  
Gen Nishimura ◽  
Andrea Superti-Furga ◽  
Sheila Unger
Keyword(s):  
Type A ◽  
Clinical Findings ◽  
Differential Diagnoses ◽  
Syndrome Type ◽  
Filamin A ◽  
Radiographic Features ◽  
Otopalatodigital Syndrome

Chapter 22 covers Type A filaminopathies and related disorders (otopalatodigital syndrome type 1 (MIM 311300), otopalatodigital syndrome type 2 (MIM304120), Melnick-Needles osteodysplasty (MIM 309350), frontometaphyseal dysplasia (MIM 305620), Frank-Ter Harr syndrome (MIM 249420)), including major clinical findings, radiographic features, and differential diagnoses.

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.

Spondyloepiphyseal Dysplasia Congenita and Related Type 2/Type 11 Collagen Disorders

2018 ◽  
pp. 65-108
Author(s):  
Jürgen W. Spranger ◽  
Paula W. Brill ◽  
Christine Hall ◽  
Gen Nishimura ◽  
Andrea Superti-Furga ◽  
...  
Keyword(s):  
Clinical Findings ◽  
Differential Diagnoses ◽  
Radiographic Features ◽  
Metaphyseal Dysplasia ◽  
Spondyloepiphyseal Dysplasia ◽  
Bone Dysplasias ◽  
Spondyloepiphyseal Dysplasia Congenita ◽  
Kniest Dysplasia

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.

Osteogenesis Imperfecta

2012 ◽  
pp. 505-523
Author(s):  
Jürgen W. Spranger ◽  
Paula W. Brill ◽  
Gen Nishimura ◽  
Andrea Superti-Furga ◽  
Sheila Unger
Keyword(s):  
Osteogenesis Imperfecta ◽  
Clinical Findings ◽  
Differential Diagnoses ◽  
Radiographic Features ◽  
Group Type

Chapter 119 covers disorders of the osteogenesis imperfecta group (Type 1 (MIM 116200), Type IIA (MIM 166210), Type IIC, Ypte III/IIB (MIM 259420), and Types IV and V (MIM 166220, 610967), 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.

Microcephalic Osteodysplastic Primordial Dwarfism, Type 1 (Mim 210710, 210730)

2012 ◽  
pp. 392-394
Author(s):  
Jürgen W. Spranger ◽  
Paula W. Brill ◽  
Gen Nishimura ◽  
Andrea Superti-Furga ◽  
Sheila Unger
Keyword(s):  
Clinical Findings ◽  
Differential Diagnoses ◽  
Radiographic Features ◽  
Primordial Dwarfism

Chapter 90 covers microcephalic osteodysplastic primordial dwarfism, type 1 (MIM 210710, 210730), including major clinical findings, radiographic features, and differential diagnoses.

Trichorhinophalangeal Syndrome, Type I (Mim 190350)

2012 ◽  
pp. 339-341
Author(s):  
Jürgen W. Spranger ◽  
Paula W. Brill ◽  
Gen Nishimura ◽  
Andrea Superti-Furga ◽  
Sheila Unger
Keyword(s):  
Clinical Findings ◽  
Differential Diagnoses ◽  
Type I ◽  
Syndrome Type ◽  
Radiographic Features ◽  
Trichorhinophalangeal Syndrome ◽  
Trichorhinophalangeal Syndrome Type 1

Chapter 73 covers trichorhinophalangeal syndrome, Type 1 (MIM 190350), including major clinical findings, radiographic features, and differential diagnoses.

Microcephalic Osteodysplastic Primordial Dwarfism, Type 2 (Mim 210720)

2012 ◽  
pp. 395-397
Author(s):  
Jürgen W. Spranger ◽  
Paula W. Brill ◽  
Gen Nishimura ◽  
Andrea Superti-Furga ◽  
Sheila Unger
Keyword(s):  
Clinical Findings ◽  
Differential Diagnoses ◽  
Radiographic Features ◽  
Primordial Dwarfism

Chapter 91 covers microcephalic osteodysplastic primordial dwarfism, type 2 (MIM 210720), including major clinical findings, radiographic features, and differential diagnoses.

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