Grebe Dysplasia; Hunter–Thompson Dysplasia; Du Pan Dysplasia; Chondrodysplasia, Acromesomelic, BMPR1B Type

2014 ◽  
pp. 247-250
Author(s):  
Stefan Mundlos ◽  
Denise Horn
Keyword(s):  
2018 ◽  
pp. 443-496
Author(s):  
Jürgen W. Spranger ◽  
Paula W. Brill ◽  
Christine Hall ◽  
Gen Nishimura ◽  
Andrea Superti-Furga ◽  
...  

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.


2003 ◽  
Vol 22 (1) ◽  
pp. 77-85 ◽  
Author(s):  
Christiane Stelzer ◽  
Andreas Winterpacht ◽  
Jürgen Spranger ◽  
Bernhard Zabel
Keyword(s):  

2003 ◽  
Vol 22 (1) ◽  
pp. 77-85 ◽  
Author(s):  
Christiane Stelzer ◽  
Andreas Winterpacht ◽  
Jürgen Spranger ◽  
Bernhard Zabel
Keyword(s):  

2012 ◽  
pp. 320-324
Author(s):  
Jürgen W. Spranger ◽  
Paula W. Brill ◽  
Gen Nishimura ◽  
Andrea Superti-Furga ◽  
Sheila Unger

Chapter 71 covers Grebe dysplasia (MIM 200700, 201250, 228900), including major clinical findings, radiographic features, and differential diagnoses.


2016 ◽  
Vol 47 (1) ◽  
pp. 108-112 ◽  
Author(s):  
Luis F. Goncalves ◽  
Julie A. Berger ◽  
Jacqueline K. Macknis ◽  
Samuel T. Bauer ◽  
David A. Bloom

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