Metaphyseal Dysplasia, Jansen Type (Mim 156400)

2012 ◽  
pp. 36-38
Author(s):  
Jürgen W. Spranger ◽  
Paula W. Brill ◽  
Gen Nishimura ◽  
Andrea Superti-Furga ◽  
Sheila Unger
Keyword(s):  
Clinical Findings ◽  
Differential Diagnoses ◽  
Laboratory Findings ◽  
Radiographic Features ◽  
Metaphyseal Dysplasia

Chapter 9 covers metaphyseal dysplasia, Jansen type (MIM 156400), including major clinical findings, laboratory findings, radiographic features, and differential diagnoses.

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.

Metaphyseal Dysplasia, Spahr Type (Mim 250400)

2012 ◽  
pp. 23-24
Author(s):  
Jürgen W. Spranger ◽  
Paula W. Brill ◽  
Gen Nishimura ◽  
Andrea Superti-Furga ◽  
Sheila Unger
Keyword(s):  
Clinical Findings ◽  
Differential Diagnoses ◽  
Radiographic Features ◽  
Metaphyseal Dysplasia

Chapter 4 covers metaphyseal dysplasia spahr type (MIM 250400), including major clinical findings, radiographic features, and differential diagnoses.

Dysorders with Defective Mineralization

2018 ◽  
pp. 557-574
Author(s):  
Jürgen W. Spranger ◽  
Paula W. Brill ◽  
Christine Hall ◽  
Gen Nishimura ◽  
Andrea Superti-Furga ◽  
...  
Keyword(s):  
Primary Hyperparathyroidism ◽  
Clinical Findings ◽  
Differential Diagnoses ◽  
Laboratory Findings ◽  
Radiographic Features ◽  
Bone Dysplasias ◽  
Neonatal Severe Primary Hyperparathyroidism

This chapter further discusses bone dysplasias and includes discussion on hypophosphatasia, neonatal severe primary hyperparathyroidism, and hereditary rickets. Each discussion includes major radiographic features, major clinical findings, major laboratory 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.

Image (Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies) Syndrome (Mim 300290)

2012 ◽  
pp. 398-399
Author(s):  
Jürgen W. Spranger ◽  
Paula W. Brill ◽  
Gen Nishimura ◽  
Andrea Superti-Furga ◽  
Sheila Unger
Keyword(s):  
Growth Retardation ◽  
Intrauterine Growth Retardation ◽  
Clinical Findings ◽  
Differential Diagnoses ◽  
Radiographic Features ◽  
Metaphyseal Dysplasia ◽  
Intrauterine Growth ◽  
Adrenal Hypoplasia Congenita ◽  
Adrenal Hypoplasia

Chapter 92 covers IMAGE (intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies) syndrome (MIM 300290), including major clinical findings, radiographic features, and differential diagnoses.

Omenn Syndrome with Metaphyseal Chondrodysplasia (Mim 200900; 603554)

2012 ◽  
pp. 27-28
Author(s):  
Jürgen W. Spranger ◽  
Paula W. Brill ◽  
Gen Nishimura ◽  
Andrea Superti-Furga ◽  
Sheila Unger
Keyword(s):  
Clinical Findings ◽  
Differential Diagnoses ◽  
Omenn Syndrome ◽  
Laboratory Findings ◽  
Radiographic Features ◽  
Metaphyseal Chondrodysplasia

Chapter 6 covers Omenn Syndrom with metaphyseal chondrodysplasia (MIM 200900; 603554), including major clinical findings, laboratory findings, radiographic features, and differential diagnoses.

Dysplasias with Predominant Metaphyseal Involvement

2018 ◽  
pp. 33-64
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 ◽  
Metaphyseal Chondrodysplasia ◽  
Cartilage Hair Hypoplasia ◽  
Shwachman Syndrome

This chapter discusses metaphyseal eysplasias and explores metaphyseal chondrodysplasia (Schmid type), cartilage-hair hypoplasia, metaphyseal dysplasia (Spahr type), metaphyseal anadysplasia, Shwachman syndrome, metaphyseal chondrodysplasia (Jansen type), Eiken dysplasia, and chronic infantile neurologic cutaneous and articular syndrome (CINCA). Each discussion includes major clinical findings, major radiographic features, genetics, major differential diagnoses, and a bibliography.

Cartilage-Hair Hypoplasia (Mim 250250)

2012 ◽  
pp. 20-22
Author(s):  
Jürgen W. Spranger ◽  
Paula W. Brill ◽  
Gen Nishimura ◽  
Andrea Superti-Furga ◽  
Sheila Unger
Keyword(s):  
Clinical Findings ◽  
Differential Diagnoses ◽  
Laboratory Findings ◽  
Radiographic Features ◽  
Cartilage Hair Hypoplasia

Chapter 3 covers cartilage-hair hypoplasia (MIM 250250), including major clinical findings, laboratory findings, radiographic features, and differential diagnoses.

Spondylo-Megaepiphyseal-Metaphyseal Dysplasia (Smmd) (Mim 613330)

2012 ◽  
pp. 185-186
Author(s):  
Jürgen W. Spranger ◽  
Paula W. Brill ◽  
Gen Nishimura ◽  
Andrea Superti-Furga ◽  
Sheila Unger
Keyword(s):  
Clinical Findings ◽  
Differential Diagnoses ◽  
Radiographic Features ◽  
Metaphyseal Dysplasia

Chapter 33 covers spondylo-megaepiphyseal-metaphyseal dysplasia (SMMD - MIM 613330), including major clinical findings, radiographic features, and differential diagnoses.

Shwachman Syndrome (Mim 260400)

2012 ◽  
pp. 25-26
Author(s):  
Jürgen W. Spranger ◽  
Paula W. Brill ◽  
Gen Nishimura ◽  
Andrea Superti-Furga ◽  
Sheila Unger
Keyword(s):  
Clinical Findings ◽  
Differential Diagnoses ◽  
Laboratory Findings ◽  
Radiographic Features ◽  
Shwachman Syndrome

Chapter 5 covers Shwachman Syndrom (MIM 260400), including major clinical findings, laboratory findings, radiographic features, and differential diagnoses.

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