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.

Neonatal Severe Primary Hyperparathyroidism (Mim 239200)

2012 ◽  
pp. 557-558
Author(s):  
Jürgen W. Spranger ◽  
Paula W. Brill ◽  
Gen Nishimura ◽  
Andrea Superti-Furga ◽  
Sheila Unger
Keyword(s):  
Primary Hyperparathyroidism ◽  
Clinical Findings ◽  
Differential Diagnoses ◽  
Radiographic Features ◽  
Neonatal Severe Primary Hyperparathyroidism

Chapter 130 covers neonatal severe primary hyperparathyroidism (MIM 239200), including major clinical 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.

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.

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.

Limb Aplasias and Hypoplasias (Selected)

2018 ◽  
pp. 863-888
Author(s):  
Jürgen W. Spranger ◽  
Paula W. Brill ◽  
Christine Hall ◽  
Gen Nishimura ◽  
Andrea Superti-Furga ◽  
...  
Keyword(s):  
Cleft Lip ◽  
Clinical Findings ◽  
Differential Diagnoses ◽  
Long Bone ◽  
Poland Syndrome ◽  
Radiographic Features ◽  
Bone Deficiency ◽  
Bone Dysplasias ◽  
Cleft Lip Palate ◽  
Nager Syndrome

This chapter further discusses bone dysplasias and includes discussion on Al-Awadi Raas-Rothschild syndrome, Roberts/SC phocomelia syndrome, ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome, split-hand/split-foot malformation with long bone deficiency (SHFLD), femoral-facial syndrome (FFS), femur-fibula-ulna syndrome, Poland syndrome, and Nager syndrome. Each discussion includes major radiographic features, 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.

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.

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.

Osteolyses

2018 ◽  
pp. 689-716
Author(s):  
Jürgen W. Spranger ◽  
Paula W. Brill ◽  
Christine Hall ◽  
Gen Nishimura ◽  
Andrea Superti-Furga ◽  
...  
Keyword(s):  
Clinical Findings ◽  
Differential Diagnoses ◽  
Radiographic Features ◽  
Familial Expansile Osteolysis ◽  
Bone Dysplasias ◽  
Mandibuloacral Dysplasia

This chapter further discusses bone dysplasias, and includes discussion on familial expansile osteolysis, hyaline fibromatosis, mandibuloacral dysplasia, progeria, Winchester-Torg syndrome, Hajdu-Cheney osteolysis, and multicentric carpal-tarsal osteolysis. Each discussion includes major radiographic features, major clinical findings, genetics, major differential diagnoses, and a bibliography.

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.

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