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A recurrence of a hydrop lethal skeletal dysplasia showing similarity to Desbuquois dysplasia and a proposed new sign: The Upsilon sign

Baynam, G., Kiraly-Borri, C., Goldblatt, J., Dickinson, J.E., Jevon, G.P. and Overkov, A. (2010) A recurrence of a hydrop lethal skeletal dysplasia showing similarity to Desbuquois dysplasia and a proposed new sign: The Upsilon sign. American Journal of Medical Genetics: Part A, 152A (4). pp. 966-969.

Link to Published Version: http://dx.doi.org/10.1002/ajmg.a.33264
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Abstract

We report on a recurrence of a lethal skeletal dysplasia with features similar to Desbuquois dysplasia (DD) to expand the phenotypic spectrum of DD-like conditions, to increase awareness of DD-like phenotypes in the differential diagnosis of prenatal onset skeletal dysplasias, and to suggest a new sign, the Upsilon sign, to aid in the differential diagnosis of skeletal dysplasias with an extra ossification centre distal to second metacarpal.

Publication Type: Journal Article
Publisher: Wiley
Copyright: © 2010 Wiley-Liss, Inc.
URI: http://researchrepository.murdoch.edu.au/id/eprint/25227
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