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.

Ectrodactyly -Ectodermal Dysplasia-Cleft Lip/Palate Syndrome and Isolated Ectrodactyly (Mim 129900; 604292; 119100; 313350; 600095; 605289; 603273; 225300)

2012 ◽  
pp. 741-744
Author(s):  
Jürgen W. Spranger ◽  
Paula W. Brill ◽  
Gen Nishimura ◽  
Andrea Superti-Furga ◽  
Sheila Unger
Keyword(s):  
Cleft Lip ◽  
Ectodermal Dysplasia ◽  
Clinical Findings ◽  
Differential Diagnoses ◽  
Radiographic Features ◽  
Cleft Lip Palate

Chapter 168 covers ectrodactyly-ectodermal dysplasia - cleft lip/palate syndrome and isolated ectrodactyly (MIM 129900, 604292, 119100, 313350, 605289, 603273, 225300), 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.

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.

Poland Syndrome (MIM 173800)

2012 ◽  
pp. 763-764
Author(s):  
Jürgen W. Spranger ◽  
Paula W. Brill ◽  
Gen Nishimura ◽  
Andrea Superti-Furga ◽  
Sheila Unger
Keyword(s):  
Clinical Findings ◽  
Differential Diagnoses ◽  
Poland Syndrome ◽  
Radiographic Features

Chapter 175 covers Poland syndrome (MIM 173800), including major clinical 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.

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.

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.

Punctate Calcification Group

2018 ◽  
pp. 351-378
Author(s):  
Jürgen W. Spranger ◽  
Paula W. Brill ◽  
Christine Hall ◽  
Gen Nishimura ◽  
Andrea Superti-Furga ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Clinical Findings ◽  
Differential Diagnoses ◽  
Chondrodysplasia Punctata ◽  
Limb Defects ◽  
Dominant Type ◽  
Radiographic Features ◽  
Keutel Syndrome ◽  
Punctate Calcification ◽  
Autosomal Dominant Type

This chapter discusses punctate calcification group and related disorders and includes discussion on Greenberg dysplasia, chondrodysplasia punctata Conradi-Hünermann type, CHILD (congenital hemidysplasia with ichthyosiform erythroderma and limb defects) syndrome, chondrodysplasia punctata (rhizomelic type), chondrodysplasia punctata (brachytelephalangic type), chondrodysplasia punctata (autosomal dominant type), chondrodysplasia punctata (tibia-metacarpal type), and Keutel syndrome. Each discussion includes major radiographic features, major clinical findings, genetics, major differential diagnoses, and a bibliography.

Sign in / Sign up

Export Citation Format

Share Document