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

Spondyloepiphyseal Dysplasia Congenita and Related Type 2/Type 11 Collagen Disorders
Chapter:
Spondyloepiphyseal Dysplasia Congenita and Related Type 2/Type 11 Collagen Disorders
Author(s):

Jürgen W. Spranger

, Paula W. Brill

, Christine Hall

, Gen Nishimura

, Andrea Superti-Furga

, and Sheila Unger

DOI:
10.1093/med/9780190626655.003.0004
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date: 29 March 2020

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.

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