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Filamin-Associated Dysplasias/Dysostoses and Related Disorders 

Filamin-Associated Dysplasias/Dysostoses and Related Disorders
Chapter:
Filamin-Associated Dysplasias/Dysostoses and Related Disorders
Author(s):

Jürgen W. Spranger

, Paula W. Brill

, Christine Hall

, Gen Nishimura

, Andrea Superti-Furga

, and Sheila Unger

DOI:
10.1093/med/9780190626655.003.0009
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date: 22 September 2020

This chapter discusses filamin-associated dysplasias/dysostoses and related disorders and includes discussion on otopalatodigital syndrome type 1, otopalatodigital syndrome type II, Melnick-Needles osteodysplasty, frontometaphyseal dysplasia, boomerang dysplasia/atelosteogenesis type I, atelosteogenesis type III, Larsen syndrome (autosomal dominant), spondylocarpotarsal synostosis syndrome, and Frank-ter Haar syndrome. Each discussion includes major radiographic features, major clinical findings, genetics, major differential diagnoses, and a bibliography.

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