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New mesomelic dysplasia with absent fibulae and triangular tibiae

✍ Scribed by Savarirayan, Ravi ;Cormier-Daire, Val�rie ;Curry, Cynthia J. ;Nashelsky, Marcus B. ;Rappaport, Valerie ;Rimoin, David L. ;Lachman, Ralph S.

Publisher: John Wiley and Sons
Year: 2000
Tongue: English
Weight: 244 KB
Volume: 94
Category: Article
ISSN: 0148-7299
DOI: 10.1002/1096-8628(20000904)94:1<59::aid-ajmg12>3.0.co;2-2

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## Short-limb dwarfism is of heterogeneous origin and has various clinical manifestations. This communication describes a previously apparently unreported type of short-limb dwarfism in 3 affected sibs. Characteristics of this syndrome are bilateral absence of fibulae and severe abnormalities of a